Unilateral fusion of the frontosphenoidal suture: a rare cause of synostotic frontal plagiocephaly

Unilateral coronal synostosis is the common appellation for premature, one-sided fusion of the frontoparietal suture-the most common cause of synostotic frontal plagiocephaly. However, frontal asymmetry can also result from isolated fusion across the anterior cranial base without involvement of the frontoparietal suture. This article describes three patients with localized synostosis of the frontosphenoidal suture, the medial extension of the coronal ring. Two patients were initially misdiagnosed as having unilateral coronal synostosis and the other as having deformational frontal plagiocephaly. The patients had variable frontal flattening, with depression and recession of the ipsilateral orbital rim. The nasal root was midline or slightly deviated to the contralateral side. The sagittal position of the ipsilateral malar eminence was slightly retruded in one patient and symmetric in the other two. The auricular position was symmetric in the sagittal plane for all patients. In all three patients, computed tomography examination demonstrated a patent frontoparietal suture and fusion of the frontosphenoidal suture (basilar hemicoronal ring). Two patients had involvement of contiguous sutures: one had fusion extending to the sphenoethmoidal suture and the other's involved part of the sphenozygomatic suture. The sagittal suture was midline in all patients. In summary, synostotic frontal plagiocephaly denotes a relatively broad phenotypic spectrum that includes unilateral coronal synostosis and more isolated fusions in the basilar coronal ring. The physical findings resulting from frontosphenoidal synostosis are unique, yet careful evaluation will minimize confusion with other causes of asymmetric frontal flattening. Proper diagnosis necessitates awareness of this uncommon entity and requires focused computed tomographic assessment.     

Anthropometric study of synostotic frontal plagiocephaly: before and after fronto-orbital advancement with correction of nasal angulation

Surgical correction of synostotic frontal plagiocephaly (unilateral coronal synostosis) focuses on the asymmetry of the forehead and orbits. However, there is controversy regarding whether nasal angulation should be addressed during primary fronto-orbital advancement in infancy. This prospective study was undertaken to answer that question. Preoperative and postoperative anthropometric measurements were obtained for 19 infants with nonsyndromic synostotic frontal plagiocephaly. The measurements included nasal angulation, nasion-to-endocanthion distance, nasion-to-exocanthion distance, and exocanthion-to-tragion distance. All patients underwent bilateral parallelogrammatic fronto-orbital correction. Closing wedge nasal ostectomy was performed for group I (n = 14) and was not performed for group II (n = 5). The average age at the time of follow-up assessments was 3 years 8 months (range, 1 to 14 years) in group I and 5 years 5 months (range, 2 to 15 years) in group II. A statistically significant change was observed for patients who underwent primary correction of nasal angulation; the change correlated with improved naso-orbital symmetry, as judged with nasion-to-endocanthion and nasion-to-exocanthion measurements (p < 0.01 and p < 0.05, respectively). Group I patients exhibited an average preoperative nasal angulation of 9.15 +/- 0.8 degrees that decreased to 3.1 +/- 0.6 degrees postoperatively (p < 0.01). Group II patients exhibited an average preoperative nasal angulation of 6.4 +/- 0.7 degrees that was unchanged postoperatively at 7.2 +/- 1 degrees. The improvement in nasal angulation in group I was particularly striking because the patients in group II exhibited, on average, a lesser degree of preoperative nasal deviation (p < 0.01). This prospective comparison of fronto-orbital correction of synostotic frontal plagiocephaly with and without nasal correction confirmed an earlier study and demonstrated that angulation of the nasal pyramid does not self-correct within 5 years after traditional bilateral fronto-orbital repair. Closing wedge nasal ostectomy results in improved nasal angulation and naso-orbital symmetry, without evidence of distortion or inhibition of nasal growth.     

Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis)

Mutations in genes known to be responsible for most of the recognizable syndromes associated with bilateral coronal synostosis can be detected by molecular testing. The genetic alterations that could cause unilateral coronal synostosis are more elusive. It is recognized that FGFR and TWIST mutations can give rise to either bilateral or unilateral coronal synostosis, even in the same family. The authors undertook a prospective study of patients presenting with synostotic frontal plagiocephaly (unilateral coronal synostosis) to Children's Hospital Boston during the period from 1997 to 2000. Mutational analysis was performed on all patients and on selected parents whenever familial transmission was suspected. Intraoperative anthropometry was used in an effort to differentiate those patients in whom a mutation was detected from those in whom it was not. The anthropometric measures included bilateral sagittal orbital-globe distance, inter medial canthal distance, and nasal angulation. Macrocephaly and palpebral angulation were also considered possible determinants. There was a 2:1 female preponderance in 47 patients with synostotic frontal plagiocephaly. Mutations were found in eight of 47 patients: two patients with different single-amino-acid changes in FGFR2, three patients with FGFR3 Pro250Arg, and three patients with TWIST mutations. Another patient had craniofrontonasal syndrome for which a causative locus has been mapped to chromosome X, although molecular testing is not yet available. Two features were strongly associated with a detectable mutation in patients with synostotic frontal plagiocephaly: asymmetrical brachycephaly (retrusion of both supraorbital rims) and orbital hypertelorism. Other abnormalities in the craniofacial region and extremities were clues to a particular mutation in FGFR2, FGFR3, TWIST, or the X-linked mutation. Neither macrocephaly nor degree of nasal angulation nor relative vertical position of the lateral canthi correlated with mutational detection. An additional four patients in this study had either unilateral or bilateral coronal synostosis in an immediate relative and had anthropometric findings that predicted a mutation, and yet no genetic alteration was found. This suggests either that the authors' screening methods were not sufficiently sensitive or that perhaps there are other unknown pathogenic loci. Nevertheless, molecular testing is recommended for infants who have unilateral coronal synostosis, particularly if there are the anthropometric findings highlighted in this study or an otherwise suspicious feature in the child or a parent. Infants with either an identified or a suspected mutation usually need bilateral asymmetric advancement of the bandeau and may be more likely to require frontal revision in childhood.     

Coronal ring involvement in patients treated for unilateral coronal craniosynostosis

The etiopathology of the clinical entity normally referred to as unilateral coronal synostosis is commonly used to connote unilateral fusion of the frontoparietal suture. However, other sutures in the coronal ring may exhibit synostosis concomitant with or independent from frontoparietal synostosis and give rise to similar clinical phenotypes. This study retrospectively analyzes high-resolution computed tomographic data sets to determine patency of sutures within the coronal ring. Computed tomographic scan digital data from 33 infants who subsequently underwent surgical correction of unilateral coronal synostosis were assessed for sutural patency using Analyze imaging software. The frontosphenoidal suture was subdivided into intraorbital frontosphenoidal and extraorbital frontosphenoidal portions, and the patency of the frontoethmoidal suture was also assessed. Patients were sorted into two groups on the basis of the status of their frontosphenoidal sutures: group 1 had patent frontosphenoidal but synostotic frontoparietal sutures (n = 21) and group 2 had both frontosphenoidal and frontoparietal synostoses. Observer reproducibility was tested. The vertical and horizontal dimensions of the bony orbit and the endocranial base deflection angle were measured with the observer blinded with regard to sutural status group. Frontoethmoidal synostosis was not noted in any patients in either group. Two patients had no frontoparietal suture synostosis with isolated intraorbital frontosphenoidal and extraorbital frontosphenoidal suture closures. Suture diagnosis reproducibility was 99 percent. In group 1, the ipsilateral-to-contralateral vertical orbit dimension ratio averaged 1.11, whereas in group 2 it averaged 1.04 (p < 0.05). The ratio of horizontal orbit measurements was not significantly different between groups. In both groups, the endocranial base was deflected ipsilateral to the synostotic frontoparietal suture, with an average angle of 12 degrees in group 1 and 17 degrees in group 2 (p < 0.005). The extent of synostosis along the coronal sutural ring contributes to the dysmorphology of the orbit and the endocranial base deflection in patients whose clinical phenotypic diagnosis is unilateral coronal synostosis.     

Analysis of fronto-orbital advancement for Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes

The purposes of this study were (1) to document outcome after primary fronto-orbital advancement for the four major eponymous craniosynostotic syndromes (Apert, Crouzon, Pfeiffer, and Saethre-Chotzen) and (2) to identify factors that might influence need for primary and secondary fronto-orbital advancement or foreheadplasty. Also tested was the hypothesis that coincident sagittal synostosis could modulate brachycephaly and affect whether a primary or secondary frontal operation was necessary. Data were collected on age and indications for initial operation, type of primary and secondary frontal procedures, and concomitant sagittal synostosis. Patients initially managed by subcranial Le Fort III were included in the study group but excluded from analysis of fronto-orbital advancement. Patients treated by monobloc advancement or Le Fort III osteotomies with frontal grafting or Anderl modification were assessed as having had primary fronto-orbital advancement. Minimum time to follow-up was 5 years. A total of 126 patients met inclusion criteria. Lateral photographs were examined to assess preoperative and postoperative sagittal position of supraorbital rims-to-globes. Frontal re-advancement was indicated if the corneal apex was anterior to the supraorbital rim. Foreheadplasty was indicated for unacceptable frontal contour and normal supraorbital rim-to-globe relationship. Primary correction for frontal retrusion was not required in 4 percent of Apert (1 of 25), 16 percent of Crouzon (7 of 44), 6 percent of Pfeiffer (2 of 31), and 19 percent of Saethre-Chotzen (5 of 26) patients. Of those infants who had a primary fronto-orbital advancement, reoperation for either supraorbital retrusion or frontal deformity was necessary in all 16 Apert patients and in 5 of 19 Crouzon (26 percent), 10 of 26 Pfeiffer (38 percent), and 13 of 20 Saethre-Chotzen (65 percent) patients (p < 0.001). Age at initial fronto-orbital advancement did not influence reoperative rate. No correlation was found between concomitant sagittal synostosis and necessity for primary or secondary frontal correction (p = 0.22). In summary, phenotypic diagnosis was determinant for outcome as defined by need for secondary fronto-orbital advancement, foreheadplasty, or both. Apert patients had the highest incidence of reoperation for frontal retrusion or forehead contour. Crouzon and Saethre-Chotzen patients were most likely to express a minor phenotype and not require fronto-orbital correction. Coincident sagittal synostosis did not influence frontal projection, as reflected in need for either primary or secondary frontal advancement.     

Calvarial sutural abnormalities: metopic synostosis and coronal deformation--an anatomic, three-dimensional radiographic, and pathologic study

The purposes of this study were (1) to evaluate the histologic differences between synostotic versus deformational suture abnormalities and (2) to correlate these histologic findings with anatomic and three-dimensional computed tomographic (CT) scans. We examined three infants with premature metopic synostosis; one infant also had microcephaly trisomy 13 and curious overriding of the coronal sutures. The three-dimensional CT scans demonstrated obliteration of the metopic suture inferiorly. Histologic sections of this suture showed complete bony stenosis. The same pattern was found in all three infants, including the two infants with trigonocephaly who did not have trisomy 13 or microcephaly. In the trisomy 13 infant, the overlapped inferior coronal suture was obliterated on CT examination. However, histologic sections in this region showed a merging of bone; there was no synostosis. In summary, three-dimensional CT re-formation correlated with metopic suture histology. "Stenotic" fusion existed in all infants with trigonocephaly, those with normal and abnormal karyotypes, with and without microcephaly. However, three-dimensional CT re-formation of the trisomic infant showed opacification of the coronal suture in the areas of greatest overlap, whereas histology revealed a curious bone remodeling pattern, possibly a precursor to "deformational" craniosynostosis.     

Growth restriction of cranial sutures in the fetal lamb causes deformational changes, not craniosynostosis

Newborns with in utero cranial vault molding can present with severe forms of plagiocephaly. Intrauterine constraint has been proposed as one cause for craniosynostosis. The purpose of this experiment was to investigate whether rigid plate fixation across a fetal cranial suture, representing a severe form of growth restriction in utero, would lead to cranial suture fusion in a fetal lamb model. Six fetal lambs at 85 to 95 days gestation (term = 145 days) underwent laparotomy, hysterotomy, fetal coronal scalp incision, and miniplate screw fixation across the right coronal suture in utero. Two unoperated twins and four unoperated age-matched lambs were used as controls (n = 12). Animals were killed at both 4 and 8 weeks postoperatively. Fetal head analysis consisted of gross examination, photography, basilar and lateral radiographs, and three-dimensional computed tomographic scans. Cranial suture analysis consisted of imaging by computed tomographic scan (axial and sagittal cuts) and histology of experimentally plated coronal sutures, contralateral nonplated coronal sutures and twin control coronal sutures. Gross examination, radiographs, and three-dimensional computed tomographic analysis of heads with cranial suture plating showed ipsilateral forehead flattening, contralateral forehead bossing, superiorly displaced ipsilateral orbital rim, anterolateral projection of ipsilateral malar eminence, and anterior position of the ipsilateral ear point compared with the contralateral side of the same animal and normal controls. There was no change in nasal root, chin point, or predentition occlusal plane. Although analysis of the plated coronal sutures by computed tomographic scans showed diminished width or even stenosis, the histology revealed narrowed but patent experimental coronal sutures at 4 and 8 weeks. Contralateral, nonplated coronal sutures were not only patent, but widened compared with normal control sutures. This finding may have represented compensatory changes in the contralateral coronal suture caused by growth restriction at the plated suture. These data demonstrate that intrauterine growth restriction across a cranial suture caused by compression plate fixation resulted in deformational skull changes, not craniosynostosis. In addition, these data strongly support a role for in utero positional molding secondary to growth restriction in the maternal pelvis as a cause for nonsynostotic plagiocephaly seen in newborns.     

The principle of rotation advancement for repair of unilateral complete cleft lip and nasal deformity: technical variations and analysis of results.

This is an assessment of one surgeon's 15-year experience (1981-1995) using the Millard rotation-advancement principle for repair of unilateral complete cleft lip and nasal deformity. All infants underwent a prior labio-nasal adhesion. Since 1991, dentofacial orthopedics with a pin-retained (Latham) appliance was used for infants with a cleft of the lip and palate. Technical variations are described, including modifications in sequence of closure. A high rotation and releasing incision in the columella lengthens the medial labial element and produces a symmetric prolabium with minimal transgression of the upper philtral column by the advancement flap. Orbicularis oris muscle is everted, from caudad to cephalad, to form the philtral ridge. A minor variation of unilimb Z-plasty is used to level the cleft side of Cupid's bow handle, and cutaneous closure proceeds superiorly from this junction. The dislocated alar cartilage is visualized though a nostril rim incision and suspended to the ipsilateral upper lateral cartilage. Symmetry of the alar base is addressed in three dimensions, including maneuvers to position the deviated anterior-caudal septum, configure the sill, and efface the lateral vestibular web. Secondary procedures were analyzed in 105 consecutive patients, both revised (n = 30) and unrevised (n = .75). The possible need for revision in the latter group was determined by panel assessment of six indicators of nasolabial asymmetry, documented by frontal and submental photographs. In the entire study period, a total of 80 percent of children required or will need nasal revision, and a total of 42 percent required or will require labial revision. In the last 5 years, as compared with the earlier decade, there was a significantly diminished incidence of patients requiring labial revision (54 percent to 21 percent) and alar suspension (63 percent to 32 percent). These improvements are attributable to technical refinements and experience, although dentofacial orthopedics may also have played a role.     

Orbital roof fractures in the pediatric population

Twenty-three patients aged 3.3 +/- 1.6 years (mean +/- SD) presented between January of 1984 and September of 1987 with fronto-orbital trauma resulting in fractures of one (N = 20) or both (N = 3) orbital roofs. All patients had computed tomography (CT) with axial and coronal sections that revealed three fracture patterns of the orbital roof (nondisplaced, superiorly displaced, and inferiorly displaced fractures). Orbital dystopia was exhibited in 35 percent (N = 8) of the patients. Exophthalmos was noted in 61 percent (N = 14) of the patients. Only 30 percent of the patients (N = 7) sustained associated maxillofacial fractures. Eight percent of fractures exhibited orbital encephaloceles. All patients lacked frontal sinus pneumatization. The majority of children with orbital roof fractures do not exhibit concomitant facial fractures. CT utilizing both axial and coronal sections is valuable in defining the extent and pattern of the fracture as well as in identifying associated neurologic injuries. Large, displaced orbital roof fractures, which occurred in 3 of 13 patients with displaced fractures in our series, should undergo early reduction to avoid late development of encephalocele.     

The epidemiology of white full-term infants with short crown-heel lengths for gestational ages at birth

Fetal growth retardation was diagnosed in 137 (7.8 percent) of 1,757 white full-term infants who had crown-heel lengths below the fifth percentiles for their gestational ages. The incidence of short infants was 121 (11.1 percent) among 1,093 mothers with high-risk pregnancies compared to 16 (2.4 percent) in 664 low-risk mothers (p less than 0.0001). There were four high-risk categories: spontaneous premature rupture of membranes (PROM), fetal conditions, complications of pregnancy, and adverse maternal practices. The incidence of short infants was significantly higher in each of the four high-risk categories than in the low-risk group. There were three other conditions that were present in all pregnancies that were associated with the frequency of short infants: maternal height, socioeconomic status of head of household, and sex of infant. A short maternal height (under 157.7 cm = 62 inches) was significantly associated with an increase in short infants among mothers who smoked cigarettes at any level during pregnancy and among mothers with PROM in combination with other risks, but not in the group of 664 low-risk mothers. Significantly more short girls than short boys were born to mothers who smoked ten or more cigarettes a day throughout pregnancy or who had multiple adverse maternal practices, but no statistically significant differences were noted among mothers who smoked fewer than ten cigarettes per day, among those with PROM as the only risk factor, or among those with medical or obstetrical complications. Moreover, those mothers who were in socioeconomic groups III and IV and had other risk factors had a significantly higher incidence of short infants than did similar mothers in socioeconomic groups I and II.     

Frontal distribution of early cortical somatosensory evoked potentials to median nerve stimulation

The topography of early frontal SEPs (P20 and N26) to left median nerve stimulation was studied in 30 normal subjects and 3 patients with the left frontal bone defect. The amplitudes of P20 and N26 were maximum at the frontal electrode (F4) contralateral to the stimulation and markedly decreased at frontal electrodes ipsilateral to the site of stimulation. There was, however, no latency difference of P20 and N26 between ipsilateral and contralateral frontal electrodes. These results suggest that the origin of the ipsilateral and contralateral P20 and N26 is the same. The wide distribution of P20 and N26 over both frontal areas could be explained by assuming a smearing effect from generators actually located in the rolandic fissure and motor cortex.     

Periorbital lymphatic malformation: clinical course and management in 42 patients

Lymphatic malformation in the orbital cavity and surrounding region often causes disfigurement and visual problems. To better clarify the evolution and treatment of this condition, the authors studied a retrospective cohort of 42 consecutive patients seen between 1971 and 2003 and analyzed anatomic features, complications, and management. The ratio of female to male patients was 1:1. Most periorbital lymphatic malformations were noted at birth (59 percent), presenting as either unilateral swelling (60 percent) or a periorbital mass (24 percent). Sixty-two percent of lesions were on the left side. The ipsilateral cheek, temple, and forehead also were involved in 57 percent of patients. Twenty-two percent of lesions were intraconal, 30 percent were extraconal, and 48 percent were in both spaces. Forty-five percent of children had an associated cerebral developmental venous anomaly. Periorbital lymphatic malformation caused major morbidity; 52 percent of patients had intralesional bleeding and 26 percent of patients had a history of infection. Other common complications included intermittent swelling (76 percent), blepharoptosis (52 percent), proptosis (45 percent), pain (21 percent), amblyopia (33 percent), chemosis (19 percent), astigmatism (17 percent), and strabismus (7 percent). Ultimately, 40 percent of children had diminished vision and 7 percent became blind in the affected eye. Management of periorbital lymphatic malformation involved an interdisciplinary team that included an interventional radiologist, a craniofacial surgeon, and an ophthalmologist. The two therapeutic strategies were sclerotherapy (40 percent) and resection (57 percent); most patients required several interventions. A coronal approach was used for subtotal excision of fronto-temporal-orbital lymphatic malformation in 13 patients, whereas a tarsal incision was used for lesions isolated to the eyelid (n = 14). Ocular proptosis was temporarily managed by tarsorrhaphy (n = 9), but expansion of the bony orbit was needed to correct persistent proptosis (n = 8). Orbital exenteration was necessary in two patients.     

Neurodevelopment in children with single-suture craniosynostosis and plagiocephaly without synostosis.

The objective of this study was to determine whether children with nonsyndromic craniosynostosis and plagiocephaly without synostosis demonstrated cognitive and psychomotor delays when compared with a standardized population sample. This was the initial assessment of a larger prospective study, which involved 21 subjects with nonsyndromic craniosynostosis (mean age, 10.9 months) and 42 subjects with plagiocephaly without synostosis (mean age, 8.4 months). Each child was assessed using the Bayley Scales of Infant Development-II (BSID-II) for cognitive and psychomotor development before therapeutic intervention (surgery for craniosynostosis and molding-helmet therapy for plagiocephaly without synostosis). The distribution of the scores was divided into four groups: accelerated, normal, mild delay, and significant delay. The distributions of the mental developmental index (MDI) and the psychomotor developmental index (PDI) were then compared with a standardized Bayley's age-matched population, using Fisher's exact chi-square test. Within the craniosynostosis group, the PDI scores were significantly different from the standardized distribution (p < 0.001). With regard to the PDI scores, 0 percent of the subjects in the craniosynostosis group were accelerated, 43 percent were normal, 48 percent had mild delay, and 9 percent had significant delay. In contrast, the MDI scores were not statistically different (p = 0.08). Within the group with plagiocephaly without synostosis, both the PDI and MDI scores were significantly different from the normal curve distribution (p < 0.001). With regard to the PDI scores, 0 percent of the subjects in the group with plagiocephaly without synostosis were accelerated, 67 percent were normal, 20 percent had mild delay, and 13 percent had significant delay. With regard to the MDI scores, 0 percent of the subjects in this group were accelerated, 83 percent were normal, 8 percent had mild delay and 9 percent had significant delay. This study indicates that before any intervention, subjects with single-suture syndromic craniosynostosis and plagiocephaly without synostosis demonstrate delays in cognitive and psychomotor development. Continued postintervention assessments are needed to determine whether these developmental delays can be ameliorated with treatment.     

Long-term results after microlymphaticovenous anastomoses for the treatment of obstructive lymphedema

Over the last 14 years, 134 patients with obstructive lymphedema have been treated with microlymphaticovenous anastomoses. Ninety patients were available for long-term follow-up study. Of these, 52 patients were treated by microlymphatic surgery only and 38 of them also had segmental or radical reduction surgery, either at the same time or secondarily. Objective assessment was undertaken by volume and circumferential measurements. Initially, lymphangiography was used, but a study demonstrated increased edema immediately following the investigation in one-third of the patients and it was abandoned, both preoperatively and postoperatively. In the microlymphaticovenous anastomoses only group (N = 52), subjective improvement occurred in 38 patients (73 percent). Objectively, volume changes showed a significant improvement in 22 patients (42 percent), with an average reduction of 44 percent of the excess volume. In the microlymphaticovenous anastomoses and reduction surgery, usually segmental, group (N = 38), subjective improvement occurred in 30 patients (78 percent) and objective improvement occurred in 23 patients (60 percent), with an average reduction of 44 percent of the excess volume. Of those followed up, 67 patients (74 percent) have been able to discontinue the use of conservative measures, with an average follow-up of 4.0 years and average reduction in excess volume of 26 percent. There was a 58 percent reduction in the incidence of cellulitis following surgery. In those patients who were improved, drainage resulted in increased softness of the limbs. Edema of the hand diminished considerably in most patients, although this was difficult to measure. These long-term results indicate that microlymphaticovenous anastomoses have a valuable place in the treatment of obstructive lymphedema and should be the treatment of choice in these patients. Reduction surgery can be used as an adjunct in some of these patients, especially in the posteromedial aspect of the upper arm. Liposuction has been used in failed cases or in patients in whom no lymphatics could be found. Improved results can be expected with earlier operations because patients referred earlier usually have less lymphatic disruption.     

Craniofacial anomalies in twins

Studies of twins provide insight into the relative contribution of genetic and environmental factors in the causality of structural anomalies. Thirty-five affected twin pairs were identified from a group of 1114 patients with congenital craniofacial deformities evaluated from 1972 to 1989. Forty-three of these 70 twins exhibited one or more craniofacial anomalies; these were analyzed for dysmorphic characteristics, zygosity, concordance, and family history. The anomalies were categorized into two groups: malformations and deformations. The malformations (n = 36) included hemifacial microsomia (n = 10), cleft lip and palate (n = 8), cleft palate (n = 4), rare facial cleft (n = 2), craniosynostosis (n = 2), Binder syndrome (n = 2), Treacher Collins syndrome (n = 2), craniopagus (n = 2), CHARGE association (n = 1), frontonasal dysplasia (n = 2), and constricted ears (n = 1). The deformations (n = 7) included plagiocephaly (n = 5), hemifacial hypoplasia (n = 1), and micrognathia (n = 1). Twenty-one monozygotic and 14 dizygotic twin pairs were identified. The concordance rate was 33 percent for monozygotic twins and 7 percent for dizygotic twins.(ABSTRACT TRUNCATED AT 250 WORDS)     

Levator repositioning and palatal lengthening for submucous clefts

Submucous clefts of the palate may present with velopharyngeal incompetence (VPI) or a history of recurrent otitis media. Many surgeons have favored a pharyngeal flap as primary treatment of the velopharyngeal incompetence associated with this disorder. The increasing number of case reports of sleep apnea and airway compromise associated with pharyngeal flaps prompted the use of levator muscle repositioning with palatal lengthening as initial therapy in 15 patients in an attempt to correct the pathologic anatomy while avoiding the postoperative sequelae. Patients were divided into two groups: group A (N = 8) had surgery before age 2 (11.8 +/- 5.7 months), and group B (N = 7) had surgery after 2 years of age (64.3 +/- 24.2 months). No patient in group A required a secondary operative procedure for velopharyngeal incompetence. Normal speech was obtained in 75 percent (N = 6), and slight velopharyngeal incompetence not requiring secondary correction was obtained in 25 percent (N = 2). Group B obtained less dramatic speech results: normal in 14 percent (N = 1), slight velopharyngeal incompetence in 58 percent (N = 4), and no improvement or severe velopharyngeal incompetence requiring a secondary procedure in 28 percent (N = 2). Patients with preoperative otologic disorders (N = 10) obtained significant improvement in 90 percent of cases (p = 0.002). Early surgical intervention in patients with abnormal speech prior to age 2 appears to result in normal speech in the majority of instances. Late repair with levator repositioning and palatal lengthening provided improved speech in 72 percent of patients.     

Human epidermal growth factor concentrations in urine, but not in saliva and serum, depend on thyroid state

To evaluate the effects of thyroid hormones on the concentration of epidermal growth factor (EGF), we determined values for the immunoreactive EGF concentration in the urine (U-irEGF) of newborn infants with congenital hypothyroidism (N = 19), and in urine, saliva and serum of adult patients with hypothyroidism (N = 11) and hyperthyroidism (N = 8). The values were expressed as SD score (SDS), i.e. deviation in SD units from their mean value of healthy subjects of the same age and sex. The SDS of relative U-irEGF (ng/mg creatinine) was lower (P less than 0.01) in newborn infants with congenital hypothyroidism (-0.8 +/- 0.2; mean +/- SEM) than in healthy infants. Their relative U-irEGF correlated with their serum T4 concentrations (r = 0.59, P less than 0.01). The SDS of relative U-irEGF was lower (P less than 0.01) in adult hypothyroid patients (-1.2 +/- 0.5) and higher (P greater than 0.05) in adult hypothyroid patients (0.9 +/- 0.6) than in healthy adult subjects. When subsequently euthyroid, their SDS of relative U-irEGF increased to -0.5 +/- 0.3 (P less than 0.01), and decreased to -0.7 +/- 1.1 (P less than 0.05), respectively. The irEGF concentrations in saliva and serum were not significantly different between the hypothyroid and hyperthyroid patients. Our results indicate that urinary excretion of irEGF in man is dependent on thyroid hormone.     

HElmet therapy Assessment in infants with Deformed Skulls (HEADS): protocol for a randomised controlled trial

ABSTRACT: BACKGROUND: In The Netherlands helmet therapy is a commonly used treatment in infants with skull deformation (deformational plagiocephaly or deformational brachycephaly). However, evidence on the effectiveness of this treatment is lacking. The HEADS study (Helmet therapy Assessment in Deformed Skulls) aims to determine the effects and costs of helmet therapy compared to no helmet therapy in infants with moderate to severe skull deformation. METHODS: Pragmatic randomized controlled trial (RCT) nested in a cohort study. The cohort study includes infants with a positional preference and/or skull deformation at two to four months (first assessment). At 5 months of age, all children will be assessed again and infants meeting criteria for helmet therapy will be asked to participate in the RCT. Participants will be randomly allocated to either helmet therapy or no helmet therapy. Parents of eligible infants that do not agree with enrollment in the RCT are invited to stay enrolled for follow up in a non-randomized controlled trial (nRCT); they will make the decision to start helmet therapy or not themselves. Assessments will take place at 8, 12 and 24 months of age. Main outcome is head shape measured with plagiocephalometry. Secondary outcomes are parental satisfaction with the condition, concerns about the future, anxiety level and satisfaction with the treatment and motor development and quality of life of the infant. Finally compliance and costs will also be determined. DISCUSSION: HEADS will be the first study to present data on the effectiveness of helmet therapy. Outcomes will be important for parents and their children, health care professionals and future treatment policies. They will likely influence the reimbursement of health insurance companies. Besides these health outcomes we will be able to answer several methodological questions, e.g. do participants in a RCT represent the eligible target population and do outcomes of the RCT differ from outcomes found in the nRCT? Trial registration - ISRCTN18473161.     

Incidence of low birth weight infants born to mothers with multiple risk factors

Low birth weight (LBW) is associated with a large number and variety of risk conditions during pregnancy. The number and types of risk conditions per pregnancy were determined in 1,864 white and 872 black mothers delivered at the University of Kansas Medical Center between 1975 and 1978. The incidence of LBW infants increased steadily among white and black mothers as the number of risk factors increased from none to three or four per pregnancy. Among pregnancies without spontaneous premature rupture of membranes (PROM), 51 percent of the LBW infants were born to mothers who had multiple risk factors associated with their pregnancies, even though only 18 percent of these pregnancies were associated with multiple risk factors. Among pregnancies with PROM, 72 percent were associated with multiple risk conditions, and 31 percent resulted in LBW infants. About 90 percent of LBW infants from PROM pregnancies had mothers with multiple risk factors. For all numbers of risk conditions, black mothers had a higher incidence of LBW infants than white mothers. Among black mothers without spontaneous premature rupture of membranes (PROM), the incidence of LBW infants increased from 3.2 percent (10/308) in low (zero)-risk condition pregnancies to 33 percent (16/49) among mothers with three or four risk conditions during the pregnancy. Among white mothers without PROM, the incidence of LBW infants increased from 1.7 percent (12/708) in low (zero)-risk condition pregnancies to 30 percent (19/64) in pregnancies with three or four risk conditions.(ABSTRACT TRUNCATED AT 250 WORDS)     

Neonatal Necrotizing Enterocolitis: Clinical and Radiological Features

Necrotizing enterocolitis is an uncommon but dangerous disease in premature infants. Ten cases, seen over a three-year period at the Stanford University Medical Center, represented an incidence of 0.4 percent. The patients, six of whom died, derived from a general population, in contrast to the large series of patients reported in the literature in which the incidence was from 0.9 percent to 3.7 percent.^3-6The initial symptoms—rapid respiration, periodic breathing, lethargy and irritability—were identical to those which occurred in numerous infants who had respiratory disease. Subsequent symptoms (abdominal distension, in 100 percent; vomiting, 80 percent; apneic spells, 70 percent; jaundice, 70 percent; guaic-positive stools, 60 percent) were those of nonspecific acute abdominal disease.The radiologist first made the diagnosis in 90 percent of cases. Interstitial air in the wall of the gut and the retroperitoneum, and portal vein gas were the most diagnostic radiographic features. Barium contrast studies were not helpful, and in one case led to the erroneous diagnosis of small bowel volvulus.Plain abdominal radiographs must be taken of all premature infants with symptoms of nonspecific acute abdominal disease. If the radiographs are negative, but symptoms continue, they should be repeated at frequent intervals, for early diagnosis is critical to institution of proper therapy.