The spectrum of median craniofacial dysplasia

Given the multiple permutations in craniofacial malformations, classification of median craniofacial dysplasia or midline Tessier no. 0 to 14 clefts has been difficult and disjointed. In this review, the authors present a summary of normal embryology, prior terminology, and their proposed new classification system. Median craniofacial dysplasia has tissue agenesis and holoprosencephaly at one end (the hypoplasias), frontonasal hyperplasia and excessive tissue (the hyperplasias) at the other end, and abnormal splitting or clefting and normal tissue volume (dysraphia) occupying the middle portion of the spectrum. These three distinct subclassifications have different forms of anomalies within their groups.     

The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet.

Syndromes of human congenital malformation may be classified be recognizing communities of syndromes that share multiple phenotypic similarities involving their principal diagnostic features. A community of syndromes that shares various expressions of ectodermal dysplasia and various deformities of the hands and feet is proposed; these syndromes are divisible into two classes according to the presence or absence of anomalies in the nasal or labial regions of the face. The dysmorphogenetic validity of the division is supported by the fact that the syndromes without nasal or labial anomalies have a high frequency of sensorineural deafness as one expression of ectodermal dysplasia whereas those without such anomalies do not. The usefulness of such a syndromal community as a base for evolving a taxonomic scheme of dysmorphogenetic relatedness amongst different syndromes is illustrated.     

Associated malformations in cases with neural tube defects

Infants with neural tube defects (NTDs) may have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population. The prevalences at birth of associated malformations in infants with NTDs were collected between 1979 and 2003 on all infants born in the area covered by the registry of congenital anomalies of Northeastern France in 334,262 consecutive births. Of the 360 infants with NTDs born during this period, 20.5 % had associated malformations. Associated malformations were more frequent in infants who had encephalocele (37.5 %) than in infants with anencephaly (11.8 %) or infants with spina bifida (23.7 %). Malformations in the face (oral clefts), in the musculoskeletal system, in the renal system, and in the cardiovascular system were the most common other anomalies. In conclusion the overall prevalence of malformations, which was one in five infants, emphasizes the need for a thorough investigation of infants with NTDs. A routine screening for other malformations especially facial clefts, musculoskeletal, renal and cardiac anomalies may need to be considered in infants with NTDs, and genetic counseling seems warranted in most of these complicated cases.     

Inflammatory obstruction of the olfactory clefts and olfactory loss in humans: a new syndrome?

The first step in the olfactory perception is the activation by odorants of sensory neurones in the olfactory epithelium. In humans, this sensory epithelium is located at 2 narrow passages, the olfactory clefts, at the upper part of the nasal cavities. Little is known about the physiology of these clefts. We examined, in 34 patients, the impact of obstructed clefts upon detection and postlearning identification of 5 odorants. The location and extension of the obstructions were assessed using endoscopy, CT scans, and MRI. The inflammatory obstruction was usually bilateral, extending anteroposteriorly, and confined to the clefts, with no sign of obstruction or any inflammatory disease in the rest of the nasal cavities and sinuses. When tested with 5 odorants, these patients showed greatly impaired olfaction compared with a group of 73 normosmic subjects. The majority of these 34 patients had sensory deficits equivalent to that found in another group of 41 congenital anosmic patients, where inspection with MRI indicated the lack of olfactory bulbs. This study demonstrates that the olfactory clefts, in human, function as an entity that is different from other regions of the nasal cavity and is the target for local inflammatory events that are apparently not responding to corticoid and antibiotic treatments.     

复杂型先天性心脏病诊断：低剂量大螺距双源CT 成像与超声心动图的对比研究

目的:探讨和比较双源CT和超声心动图对于复杂型先天性心脏病的诊断价值。方法:入选先心病患者47例,均使用SOMA TOM Flash CT扫描仪和超声心动图行心血管检查。所有入选患者均由外科手术或心血管造影证实。比较双源CT与超声心动图的诊断准确率。结果:经手术或心血管造影证实心内结构异常共38处,双源CT诊断34处,诊断准确率89.47%,超声心动图诊断37处,诊断准确率97.37%。两种方法比较无统计学差异;证实心外结构异常69处,双源CT诊断66处,诊断准确率95.65%,超声心电图诊断56处,诊断准确率85.51%,双源CT诊断准确率高于超声心动图(X2=7.07,P=0.008)。结论:双源CT诊断心外结构异常的诊断准确率高于超声心动图,两者结合有利于全面、准确的诊断复杂型先天性心脏病。     

Congenital Malformations: Preliminary Report of an Investigation of Reduction Deformities of the Limbs,Triggered by a Pilot Surveillance System

A brief account is given of a pilot study-surveillance system of congenital anomalies. The steps taken to investigate a suspected increase in the numbers of infants born with reduction deformities of the limbs are described. Information is presented concerning 35 infants with reduction deformities of the limbs and other deformities born in four provinces during 1969. The importance of accurate reporting of all congenital malformations on vital statistics documents and on hospital records is emphasized. It is concluded that: (1) The pilot study-surveillance system is capable of demonstrating changes in incidences of anomalies and of initiating follow-up studies within a reasonable length of time; and (2) The information collected on these 35 patients, while not sufficient to establish the etiology of the anomalies, does suggest that no currently recognized factor has been identified for the majority of these cases and that there is a great need for further detailed investiation of possible etiological factors.     

The fetal cleft palate: II. Scarless healing after in utero repair of a congenital model.

The role of fetal surgery in the treatment of non-life-threatening congenital anomalies remains a source of much debate. Before such undertakings can be justified, models must be established that closely resemble the respective human anomalies, and the feasibility and safety of these in utero procedures must be demonstrated. The authors recently described and characterized a congenital model of cleft palate in the goat. The present work demonstrates the methodology they developed to successfully repair these congenital cleft palates in utero, and it shows palatal healing and development after repair. A surgically created cleft model was developed for comparative purposes. Palatal shelf closure normally occurs at approximately day 38 of gestation in the caprine species. Six pregnant goats were gavaged twice daily during gestational days 32 to 41 (term, 145 days) with a plant slurry of Nicotiana glauca containing the piperidine alkaloid anabasine; the 12 fetuses had complete congenital clefts of the secondary palate. Repair of the congenital clefts was performed at 85 days of gestation using a modified von Langenbeck technique employing lateral relaxing incisions with elevation and midline approximation of full-thickness, bilateral, mucoperiosteal palatal flaps followed by single-layer closure. Six congenitally clefted fetuses underwent in utero repair, six remained as unrepaired controls. Twelve normal fetuses underwent surgical cleft creation by excision of a 20 x 3 mm full-thickness midline section of the secondary palate extending from the alveolus to the uvula, at 85 days of gestation. Six surgically clefted fetuses underwent concurrent repair of the cleft at that time; six clefted fetuses remained as unrepaired controls. At 2 weeks of age, no congenitally or surgically created clefts repaired in utero demonstrated gross or histologic evidence of scar formation. A slight indentation at the site of repair was the only remaining evidence of a cleft. At 6 months of age, normal palatal architecture, including that of mucosal, muscular, and glandular elements, was seen grossly and histologically. Cross-section through the mid-portion of the repaired congenitally clefted palates demonstrated reconstitution of a bilaminar palate, with distinct oral and nasal mucosal layers, after single-layer repair. In utero cleft palate repair is technically feasible and results in scarless healing of the mucoperiosteum and velum. The present work represents the first in utero repair of a congenital cleft palate model in any species. The use of a congenital cleft palate model that can be consistently reproduced with high predictability and little variation represents the ideal experimental situation. It provides an opportunity to manipulate specific variables, assess the influence of each change on the outcome and, subsequently, extrapolate such findings to the clinical arena with a greater degree of relevance.     

Hemifacial microsomia: use of the OMENS-Plus classification at the Royal Children's Hospital of Melbourne

Hemifacial microsomia is the most common facial congenital disability after cleft lip and palate, but as yet its pathogenesis remains unknown. Clinical classification systems have evolved over the last 30 years from those classifying only single components of the disorder, to those classifying according to the combination of deformities, to the most recent systems that grade each anatomical component separately, such as the Orbit, Mandible, Ear, Nerve, and Soft tissue (OMENS) system. The aim of the present study was to review the classification of patients with hemifacial microsomia treated by the Melbourne Craniofacial Unit at the Royal Children's Hospital using the OMENS-Plus system of classification and to correlate the findings with data from other centers. Records of patients treated by the craniofacial unit were reviewed and included in the study if adequate clinical records, photographs, and radiographs (anteroposterior, lateral, basal cephalometry, panoramic views) were available. The data were entered into a database file developed for this purpose. Seventy-one patients were identified from the hospital database, of which six were excluded because of incomplete data. Of the 65 patients, there were 31 (48 percent) with right-sided microsomia, 25 (38 percent) with left-sided microsomia, and nine (14 percent) with bilateral microsomia, with an overall male-to-female ratio of 1.2:1. The majority of patients had a normal orbit (77 percent), mildly hypoplastic mandibular ramus-condyle with functioning temporomandibular joint (57 percent with type M1 or M2a), normal facial nerve (76 percent), and mild soft-tissue hypoplasia (73 percent). There was a similar proportion of patients with mild ear anomalies (53 percent with grade 0 or 1) compared with those with more severe anomalies (47 percent with grade 2 or 3). Correlative analysis demonstrated a slight but positive correlation between the severity gradings of the five individual components. The correlation was lowest between the grading of the nerve and ear and that of the mandible and nerve. The data demonstrate the phenotypic variability of hemifacial microsomia and suggest a degree of relationship among the components of hemifacial microsomia. The OMENS-Plus system has provided a major advancement in the classification of hemifacial microsomia. The authors suggest refinements to the grading of the orbit and nerve components.     

Cleft lip with and without cleft palate in blacks: an analysis of 81 patients

The clinical records of 81 black patients with cleft lip with or without cleft palate were reviewed. Four had midline clefts. Of the remaining 77, 45 were unilateral (left 28, right 17), with 11 of these involving only the primary palate. Bilateral clefts were seen in 32, with only 2 involving just the primary palate. Males and females were approximately equal in number. Two were associated with EEC syndrome. Other congenital anomalies were seen in 9 patients. The family history was positive for clefts in 5 of 65 patients (7.7 percent). A review of 255 white patients with cleft lip with or without cleft palate revealed a positive family history in 94 (37 percent). The difference was statistically significant.     

Clinical features and teratogenic mechanisms of congenital absence of digits

To have a better understanding of classification of congenital hand anomalies, clinical features and teratogenic mechanisms of congenital absence of digits including ulnar and radial deficiencies, cleft hand, symbrachydactyly and constriction band were reviewed. There seemed to be four different teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features and the cause of these deficiencies is closely related to a deficit of mesenchymal cells in the limb-bud due to impairment before the formation of the limb-bud. Cleft hand, central polydactyly and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Roentgenograms of the clinical cases and skeletal changes of the anomalies in rats appear to demonstrate that cleft hand formation proceeds from osseous syndactylies and central polydactylies. The teratogenic mechanism of a cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the congenital amputation, can be regarded as equivalent to the category of transverse deficiency that is bony dysplasia of the hand. Congenital constriction ring syndrome appears after the formation of the digital rays.     

Nasal expansion in the fetal lamb: a first step toward management of cleft nasal deformity in utero

The cleft nasal deformity, a combination of malpositioned cartilage and tissue and postrepair scarring, is a difficult problem to correct. To harness the potential of scarless fetal wound healing, in utero repair of cleft lip and palate deformities has been studied but the fetal cleft nose deformity has not been addressed. The purpose of this study was to manipulate the fetal nasal shape in utero as a first step toward restoration of normal nasal form in cleft nasal deformities. To do this, preformed hypertonic sponges were placed into the right nostril of eight fetal lambs during the second trimester (when scarless cutaneous wound repair is known to occur). Then, the size and shape of fetal nasal structures were analyzed after selected time periods (1, 2, and 6 weeks) with measurements, routine histologic examination, and three-dimensional computed tomographic scans of the experimentally expanded noses compared with the control nonexpanded noses of the birth twins or age-matched specimens. Results showed that experimentally expanded nasal structures had markedly increased in septal length measurement, in nostril area (doubled), and in intranasal volume (more than doubled). Histology showed normal cellular elements without scarring in the tissue sections from the expanded nasal areas. In conclusion, the shape of nasal tissue can be manipulated without scarring in second-trimester fetal lambs after placement of a nasal expansion device. This study is an experimental first step toward restoring normal nasal form by repositioning alar cartilages and soft tissue during fetal cleft repair.     

Larsen syndrome associated with severe congenital hydrocephalus

Larsen syndrome associated with severe congenital hydrocephalus: Larsen syndrome (LS) is characterized by the association of flattened facies with a prominent forehead, a depressed nasal bridge and hypertelorism, dislocation of hips, elbows and knees, equinovarus or valgus deformities of the feet, long and tapering fingers, normal intelligence. Hydrocephalus has rarely been reported in association with LS. In this article, a newborn infant with the classical features of LS and severe congenital hydrocephalus is presented. Our purpose was to emphasize the importance of congenital hydrocephalus in infants with LS and to highlight the management of cases of LS associated with congenital hydrocephalus.     

Congenital anomalies in the baboon (Papio spp.)

Background A comprehensive survey of the prevalence of congenital anomalies in baboons has not been previously reported. We report the congenital anomalies observed over a 26‐year period in a large captive baboon colony. Methods A computer search was performed for all baboon congenital anomalies identified at necropsy and recorded on necropsy submissions. Results We identified 198 congenital anomalies in 166 baboons from 9972 necropsies (1.66% of total necropsies). The nervous, urogenital, musculoskeletal, and cardiovascular systems were most commonly affected. The most common organs affected were the brain, bone, heart, testicle, kidney, penis, aorta, and skeletal muscle. The most frequent congenital anomalies were blindness, seizures, and hydrocephalus. Conclusions The baboon has an overall frequency of congenital anomalies similar to humans and other non‐human primates. Although the most frequently affected systems are similar, congenital anomalies involving the digestive system appear to be less common in the baboon.     

Nasal fossa malformations and paramedian facial cleft: new perspectives.

Choanal atresia may be associated with other cranio-facial malformations, including various degrees of nasal fossa malformation, and may be a part of paramedian facial clefts (as described by Tessier et al. [1977]). We identified five such cases with combined clinical elements corresponding to Tessier's paramedian facial cleft, including eyelid coloboma, mild to severe choanal and nasal fossa anomalies, ethmoidal hypoplasia and anterior skull base malformation, sometimes with proboscis lateralis and half-nose hypoplasia. These observations incited us, first, to elaborate a conception which accounts for the likely embryological mechanisms involved; second, to propose a new classification based on anatomical and pathogenic embryological considerations; and last, to propose the use of transpalatal approach to restore choanal permeability, since endonasal laser therapy is particularly dangerous in such cases.     

Lateral facial clefts: a case report

A female new-born with bilateral lateral facial clefts, resulting in macrostomia, is reported. In addition she had a diminished palpebral fissure length. She died suddenly at the age of 6 months, presumably due to respiratory insufficiency. The unique combination of facial anomalies, present in this patient, has not been reported before. We discuss the differential diagnosis and the classification of facial clefts.     

Common craniofacial anomalies: facial clefts and encephaloceles

The wide variety of craniofacial malformations makes classification difficult. A simple classification system allows an overview of the current understanding of the causes, assessments, and treatments of the most frequently encountered craniofacial anomalies. Facial clefts and encephaloceles are reviewed with respect to their diverse causes, pathogenesis, anatomical features, and treatments. Approaches to the surgical treatment of these conditions are reviewed.     

Do infants with major congenital anomalies have an excess of macrosomia?

BACKGROUND: Infants that develop congenital anomalies may also have an excess prevalence of macrosomia (birth weight > or =4,000 g). This may indicate that abnormalities of glycemic control play a role in the etiology of birth defects. This study was undertaken to determine whether all infants with congenital anomalies have an excess of macrosomia and whether it is confined to specific types of anomalies. METHODS: A case-control study was conducted, comparing the birth weights of 8,226 infants with congenital anomalies ascertained by the Texas Birth Defects Monitoring Division with those of 965,965 infants without birth defects. Odds ratios were calculated to determine the association between birth weight and congenital anomalies, for 45 specific defects, and for all these defects combined. RESULTS: For all 45 defects combined, a significant association occurred only in the highest birth weight category. Infants with congenital anomalies were more likely than infants without birth defects to have a birth weight > or =4,500 g (OR = 1.65; 95% CI = 1.39-1.96). Infants born with ventricular septal defects, atrial septal defects, ventricular hypertrophy, or anomalies of the great vessels were 1.5-2.5 times more likely to weigh > or =4,000 g than were infants without birth defects. Based on small numbers, a stronger excess of macrosomia was observed for infants with encephalocele, holoprosencephaly, anomalies of the corpus callosum, preaxial polydactyly, and omphalocele. CONCLUSIONS: Our data suggest that infants with specific congenital anomalies are more likely to be macrosomic than are infants without an anomaly. If these findings are confirmed, associations between macrosomia and specific types of birth defects may help to identify birth defects that are caused by alterations in glycemic control.     

Treatment of congenital upper extremity problems

LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Describe the terminology and classification of congenital hand anomalies. 2. Describe the incidence and embryogenesis of some common congenital hand anomalies. 3. Discuss the general principles and goals for treatment of congenital hand anomalies. 4. Describe the management of five of the more common congenital hand anomalies (syndactyly, short digits, thumb duplication, hypoplastic thumb, and radial dysplasia). SUMMARY: Congenital hand anomalies can cause substantial emotional and functional problems. This article reviews the etiology, classification, and management of some of the more common hand anomalies. A general approach to the patient and the goals of treatment are reviewed, as is the approach to five specific congenital hand anomalies: syndactyly, short digits, thumb duplication, hypoplastic thumb, and radial dysplasia.