Facial duplication: case, review, and embryogenesis

The craniofacial anatomy of an infant with facial duplication is described. There were four eyes, two noses, two maxillae, and one mandible. Anterior to the single pituitary the brain was duplicated and there was bilateral arhinencephaly. Portions of the brain were extruded into a large frontal encephalocele. Cases of symmetrical facial duplication reported in the literature range from two complete faces on a single head (diprosopus) to simple nasal duplication. The variety of patterns of duplication suggests that the doubling of facial components arises in several different ways: Forking of the notochord, duplication of the prosencephalon, duplication of the olfactory placodes, and duplication of maxillary and/or mandibular growth centers around the margins of the stomatodeal plate. Among reported cases, the female:male ratio is 2:1.     

Diprosopus: a unique case and review of the literature

BACKGROUND: We present a case of partial facial duplication in a male infant. METHODS: The clinical, radiological, and laboratory findings for this patient are described, followed by a review of the literature. RESULTS: Craniofacial duplication is a rare form of conjoined twinning and presents in a wide spectrum, from dicephalus to diprosopus to partial facial duplication. Many of these cases can be diagnosed prenatally. Prenatal assessment of our patient revealed only agenesis of the corpus callosum. CONCLUSIONS: The pathogenesis is believed to involve duplication of the notochord. Where there are more severe associated anomalies, the prognosis is poor. Partial facial duplication, as in our case, is associated with fewer anomalies, and the prognosis is better. Symmetry and an excess of tissue, rather than deficiency, favor a positive result.     

Urethral Duplication in a 15-Year-Old: Case Report With Review of the Literature

Urethral duplication is a rare congenital malformation mainly affecting men and boys. Although a number of theories have been proposed to describe this condition, the actual mechanism of this disorder is still not clear. This article highlights a case of urethral duplication in a 15-year-old boy. The malformation was characterized by the presence of continent epispadic and normal apical urethra. Retrograde urethrogram through both urethral tracts simultaneously revealed the malformation as Effmann type IIA2. The patient was not offered surgical intervention as he was asymptomatic and had no problems except for a double stream of urine.Key words: Urethra, Duplication, Malformation, AbnormalityUrethral duplication is a rare congenital malformation affecting mainly men and boys. Although a number of theories have been proposed to describe this condition, the actual mechanism of this disorder is still not clear.¹ We report a case of urethral duplication in a 15-year-old boy.     

Permanent tooth emergence in Gujjars of Punjab, India.

Patterns of permanent tooth emergence in Gujjars were studied in a cross-sectional sample of 483 children ranging in age from 6 to 13 years. Females were markedly advanced in permanent tooth emergence times over males, but no such sex differences were observed in sequence of emergence. Differences between median emergence times of right and left side antimers were significant for only 4 of 28 instances (14.29%), namely central incisors, mandibular first molars in males and lateral maxillary incisors in females. In general mandibular teeth except premolars tended to emerge earlier than their maxillary counterparts. The quiescent period between first and second tooth emergence stages was longer in males than in females. Mandibular depth and morphological facial length were very significantly correlated (p < 0.01) with the number of permanent teeth present in the oral cavity.     

Agnathia and associated malformations in a male rhesus monkey

BACKGROUND: Agnathia is a rare malformation characterized by the absence of the mandible. METHODS: A male rhesus monkey with malformations was found dead and studied by internal examination, radiographs and histopathology. RESULTS: A case of a rare first branchial arch anomaly with agenesis of the mandible and tongue is presented. The animal also had visceral deformities. However, ears were normal in shape and only slightly low in position. The craniofacial malformations may reflect incomplete separation of the first branchial arch into its maxillary and mandibular processes. CONCLUSIONS: The association between the craniofacial and other corporal anomalies is unclear.     

Bilan scintigraphique osseux d’une hypercondylie unilatérale

A 10-year-old girl with unilateral condylar hyperplasia was referred to our department for a bone scan. We describe the role of the bone scan in this condition. Unilateral condylar hyperplasia is a rare disease of the mandibular condyle cartilage growth leading to facial deformity. Bone scan demonstrates the active or inactive nature of condylar hyperplasia and orients therapy. A planar bone scan completed by single-photon emission computed tomography (SPECT) combined with CT was performed. Increased uptake of the left mandibular condyle, particularly well demonstrated on SPECT images, was seen. This was confirmed by relative quantification and helped decision making to surgical treatment.     

Craniofacial changes in unilateral microtia: II. An X-ray study

Roentgenocephalometry was used for studies into the extent and character of craniofacial changes in 45 adult males with unilateral (right-sided) microtia. Out of the whole complex of changes associated with this malformation the mandibular ramus showed the most marked involvement and represented the main cause of the accompanying deviations and asymmetries. On the average, the affected half of the face was compressed toward the level of the external auditory meatus both from above and below, but there was a marked variability in individual patients examined. No signs of asymmetry were disclosed in one third of the patients while severe asymmetry was present in one fifth of the patients. Facial hemihypoplasia exerted no substantial influence on the facial profile (when no retrusion of the lower jaw was present) on the sagittal maxillomandibular relations or on the occlusion of incisors, while in transverse direction a laterosuperior deviation of the mandible towards the affected side was clearly visible. A branchiogenic malformation affected the neighboring structures, the cranial base (a more marked curving), frontonasal segment (septum and premaxillar deviation), and the neurocranium (posterior rotation of the cranial vault). The inner ear structures (semicircular canals) were affected only rarely (in 4% of patients). These findings complemented the results obtained in the first part of our study and confirmed the complex character of this inborn anomaly.     

Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype

Partial duplication of 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities such as growth retardation, microcephaly and characteristic facial features. Although the phenotype of the patient has similarities with Cornelia de Lange Syndrome they are etiologically different. We report here a 9 months old baby boy with partial duplication of 3q and features similar with Cornelia De Lange syndrome. Conventional cytogenetic analysis revealed a derivative chromosome 21. In order to determine the origin of this chromosome region we used subtelomeric FISH technique. Based on the results of all these cytogenetic studies and the physical examinations, the diagnosis is partial 3q duplication.     

Congenital bronchiolo-alveolar airway malformation in a cynomolgus macaque (Macaca fascicularis)

Pulmonary congenital anomalies in animals are rare. Previously reported malformations include accessory lung formation, pulmonary hypoplasia, pulmonary agenesis, and various forms of hamartoma. Congenital bronchiolo-alveolar airway malformation, a new entity, is described in a 1-day-old male cynomolgus macaque. This neonate experienced breathing difficulties shortly after birth and died while therapy was being administered. Grossly, the right lung was markedly increased in size, firm, and pink. Histopathologically, sections of right lung showed irregular bronchiole-like and alveolus-like structures. There was marked widening of alveolar septae by loosely arranged mesenchymal cells and many centrally located capillaries. Alveoli were lined by cuboidal epithelial cells. There were scattered islands of immature cartilage. A grossly enlarged lung containing bronchiole-like and alveolus-like structures, immature cartilage islands, and many capillaries within alveolar septae on histopathologic examination, is inconsistent with previously described congenital pulmonary anomalies in animals and humans.     

Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings

Terminal 7q duplication and terminal 13q deletion are two conditions with variable phenotypes including microcephaly, thumb a-/hypoplasia, cortical dysplasia, microphtalmia, intellectual disability and dysmorphic features. We describe a boy born to a mother with a reciprocal t (7;13) who combines both a terminal 7q33-qter duplication and terminal 13q33-qter deletion through the inheritance of a derivative chromosome 13 (der (13)). The patient presented with developmental delay, facial and non-facial dysmorphic features, hypertonia, genital abnormality and skeletal malformation but no thumb a-/hypoplasia or microphtalmia. Knowing the exact breakpoints of his chromosomal aberrations using high resolution array CGH (aCGH) and comparison of his phenotypes with those of 24 and 59 previously published cases of 7q duplication and 13q deletion, respectively, allow us to further narrow the size of the proposed critical regions for microcephaly, thumb a-/hypoplasia and hypo/hypertonia on chromosome 13.     

L’échographie Doppler dans le diagnostic des duplications gastriques chez l’enfant

Gastric duplication is a rare congenital gastrointestinal malformation responsible for abdominal pain and digestive disorders in children. When it is not discovered prenatally, it raises the problem of diagnosis of abdominal cystic mass leading to surgical excision with histological confirmation. We report 4 cases of gastric duplication diagnosed in children aged 11 days, 4 months, 6 years and 13 years of the pediatric imaging unit of the southern Teaching hospital of Rennes (France). Our goal is to emphasize on the role of medical imaging in particular the color Doppler ultrasound in the diagnosis and the monitoring of this uncommon disease of the child.     

Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation

Split-hand/split-foot malformation (SHFM) is a congenital limb malformation characterized by a median cleft of hand and/or foot due to the absence of central rays. Five loci for syndromic and non-syndromic SHFM, termed SHFM1-5, have been mapped to date. Recently, a 0.5 Mb tandem genomic duplication was found at chromosome 10q24 in SHFM3 families. To refine the minimum duplicated region and to further characterize the SHFM3 locus, we screened 28 non-syndromic SHFM families for tandem genomic duplication of 10q24 by Southern blot and sequence analysis of the dactylin gene. Of 28 families, only two showed genomic rearrangements. Representative patients from the two families exhibit typical SHFM, with symmetrically affected hands and feet. One patient is a familial case with a 511,661 bp tandem duplication, whereas the second is a sporadic case arising from a de novo, 447,338 bp duplication of maternal origin. The smaller duplication in the second patient contained the LBX1, BTRC, POLL, and DPCD genes and a disrupted extra copy of the dactylin gene, and was nearly identical to the smallest known duplicated region of SHFM3. Our results indicate that genomic rearrangement of SHFM3 is rare among non-syndromic SHFM patients and emphasize the importance of screening for genomic rearrangements even in sporadic cases of SHFM.     

Risk factors contributing to symptomatic plate removal in maxillofacial trauma patients

This study analyzed the fate of plates used to correct maxillofacial injuries and defined risk factors that eventually resulted in plate removal. The outpatient clinic files of 108 patients treated with rigid internal fixation after maxillofacial trauma were reviewed. Study variables included age, sex, trauma circumstances, diagnosis, type of fracture, approach to the facial skeleton, presence of teeth in the line of fracture, plate material, site of plates, and reasons for plate removal. Of 204 plates used for fixation, 44 plates (22 percent) were removed. When all factors were considered together, only fracture diagnosis (mandibular body and angle) and plate location (mandibular body and angle) were statistically significant. Only when each factor was considered separately, the approach to the facial skeleton (intraoral) and the type of fracture (comminuted and compound fractures) were statistically associated with plate removal. Selection of favorable plate location, the extraoral approach, and vigilant infection control may reduce plate removal in patients with maxillofacial injuries. Special attention should be given to compound and comminuted fractures of the mandibular body and angle.     

Infantile cartilaginous hamartoma of the rib. A case report

BACKGROUND: Infantile cartilaginous hamartoma of the rib is a rare condition occurring in newborn infants, with an incidence of 1 in 3,000 (0.03%) among primary bone tumor cases. Reports of this condition so far have presented the clinical, radiologic and histopathologic features. To the best of our knowledge, reports of the cytopathologic features have not been documented. In the present case report, clinical, radiologic and cytopathologic features and differential diagnosis are enumerated. CASE: A 1-month-old, male infant presented with a chest wall mass with a clinical diagnosis of osteochondroma. On fine needle aspiration cytology, a diagnosis of infantile cartilaginous hamartoma of the rib was suggested; it was supplemented by the clinical history and radiologic findings. CONCLUSION: Although rare, this condition ought to be kept in mind while dealing with infantile chest wall masses to avoid an erroneous diagnosis of malignancy, owing to its ominous cytopathologic features.     

Further evidence on relative dental maturation and somatic developmental rate in hominoids.

New data on hominoid dental development are presented. Individual bivariate pairings of all mandibular teeth were made for African apes and humans. Data were analyzed with a full linear regression model. No statistically significant differences were found among apes, although a consistent pattern of earlier incisal development was observed in Pan relative to Gorilla. This is concordant with an earlier fusion of the premaxillary:maxillary suture in Pan. Only one tooth pair differed significantly by sex among apes. Two biologically distinct human samples (Libben and Hamann-Todd), although assessed differently (extraction and radiography) yielded virtually identical results. Humans differ from apes only by earlier relative calcification of their anterior teeth. This can be viewed as a consequence of reduced facial prognathism and a shift in hominid canine function.     

Vertical facial distraction in the treatment of arhinia

Arhinia is a rare congenital malformation characterized by lack of the formation of external and internal nasal structures. Restricted midfacial growth is secondary to the loss of the midfacial growth centers. Staged reconstruction of the nasal passage and external nose is required. Vertical distraction osteogenesis is a beneficial step in the overall reconstructive program. This provides for additional bone and soft tissue for both improved aesthetic facial proportions and later surgical interventions.     

On the relative frequencies of hominid maxillary and mandibular teeth and jaws as taphonomic indicators

In southern African samples of early hominid remains, maxillary and mandibular teeth (deciduous-plus-permanent) have a virtually equal chance of accumulating in the dolomitic limestone cave deposits, of being preserved therein and recovered therefrom. Thus, of 1066 fossil teeth ofAustralopithecus spp. plusHomo habilis, 51.9 per cent are maxillary and 48.1 per cent mandibular. On the other hand, the East African sample of 847 early hominid, deciduous-plus-permanent teeth, departs more strikingly from a 1∶1 ratio: it comprises 41.0 per cent maxillary and 59.0 per cent mandibular teeth. It is inferred that mandibular teeth have a somewhat better chance of accumulating and being preserved in, and being recovered from, the open, fluvial, lacustrine and deltaic sedimentary environments of the East African sites. The dental proportions are approximately matched by the proportions of jaws. For example, the maxilla: mandible proportions at Koobi fora in northern Kenya are 33.0∶67.0 for teeth and 21.6∶78.4 for jaws. In other words, the preponderance in favour of mandibular remains is somewhat more marked in the case of jaws than of teeth, this distinction doubtless reflecting the more fragile bony structure of the maxilla and the sturdier construction of the mandible. This first study known to the author of the differential distribution of maxillary and mandibular teeth of the Plio-Pleistocene hominids leads the author to hypothesize that, where environmental conditions at the place and time of the death of the hominids have been non-destructive, non-dispersive, relatively mild and protective, maxillae and mandibles may be expected to have been conserved and recovered in approximately equal proportions—and likewise of maxillary and mandibular teeth. On the other hand, the more brutal and destructive the sedimentary environment and other taphonomic influences have been, at the place and time when the hominid individuals died, the more likely it is that the maxillary and mandibular remains of jaws and teeth will deviate from equality of proportions, generally at the expense of the maxillae and upper teeth. Hence, it is proposed that the upper jaw/low jaw ratio (Mx/Mn jaw ratio) and the maxillary teeth/mandibular teeth ratio (Mx/Mn dental ratio) may serve as two useful new gauges of the rigour of palaeo-ecological and taphonomic conditions.     

Mandibular distraction in temporomandibular joint ankylosis

Condylar damage during childhood can produce ankylosis and alteration of the mandibular growth. In case of unilateral ankylosis occurring in early childhood, a mandibular hypoplasia of the affected side may develop. The patients have limitation of mouth opening, facial asymmetry, and chin deviation toward the affected side. The aims of this study are to show the use of distraction osteogenesis in mandibular hypoplasia associated with ankylosis and to present our experience with a new therapeutic option for the treatment of mandibular hypoplasia with unilateral ankylosis in the childhood consisting of the association of arthroplasty to treat the ankylosis and mandibular distraction to correct the facial asymmetry, both accomplished in the same surgical procedure. From November of 1996 to November of 1997, three male patients aged 2, 7, and 13 years with mandibular hypoplasia and ankylosis were treated by distraction osteogenesis. An arthroplasty consisting of the resection of the ankylotic block and interposition of a temporalis muscle flap, plus coronoidectomy was done in two of them and mandibular distraction was done in all three patients. Articular functional rehabilitation began on the first postoperative day. Mandibular distraction began on the fifth postoperative day with a rate of 1 mm per day, ending when the facial symmetry was achieved. From the first postoperative day, an increase in the mouth opening was achieved; this increase continued until ending the distraction. The average duration of distraction was 22 days. Average duration of consolidation was 6 weeks. Oral opening increased from 10 mm to 35 mm in the 7-year-old patient, from 9 mm to 27 mm in the 2-year-old patient, and from 14 mm to 38 mm in the 13-year-old patient. To date, oral opening and facial symmetry persist. Osseous mandibular distraction together with arthroplasty offers an excellent new alternative for treatment of patients with mandibular hypoplasia and associated ankylosis, with minimal morbidity and complications.