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The importance of early management of sight in a baby with Hallermann-Streiff-Francois syndrome is described. Surgery for bilateral cataract was performed. Special postcataract contact lenses were fitted.
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Treacher Collins syndrome encompasses a group of closely related defects of the head and neck. It is a rare syndrome characterized by bilaterally symmetrical abnormalities derived from the first and second brachial arches and the nasal placode. It is an autosomal dominant disorder and its occurence ranges from 1 in 25,000 to 1 in 50,000 live births. The facial appearance of these patients can be improved by either surgical or prosthetic rehabilitation. In this case report we are presenting the features of a 13-year-old boy with Treacher Collins syndrome. A multidisplinary approach was followed in managing the situation. The various treatment options and the steps involved in making an auricular prosthesis are also discussed.
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The purpose of this study was to evaluate the spectrum of sonographic findings, karyotypic abnormalities, and clinical outcome in cases of fetal micrognathia. Twenty fetuses with sonographically identified micrognathia were identified between 15 weeks' gestation and term. Five of 20 fetuses (25%) had abnormal karyotypes, including three with trisomy 18 and one each with trisomy 13 and trisomy 9. Sixteen of the 20 fetuses (80%) did not survive: Ten died in utero or during the neonatal period, and six pregnancies were terminated electively. Three of 20 fetuses (15%) had micrognathia as the sole sonographic finding. Two of these fetuses survived, one with growth retardation and one with Pierre Robin syndrome. Thirteen of 20 pregnancies were complicated by polyhydramnios. The diversity of the syndromes represented in our cases of micrognathia indicates a wide breadth of possible diagnoses when micrognathia is encountered prenatally. The poor prognosis and associated karyotypic and lethal anomalies are remarkable, with survival of only four of 20 fetuses in this report.
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Distraction osteogenesis is a technique utilizing natural healing mechanisms to generate new bone; it is commonly used to lengthen the hypoplastic mandible. Distraction of the maxilla and mandible as a unit is an obvious extension of the technique. We describe the application of a semiburied distractor to simultaneously lengthen the mandible and maxilla and level a canted occlusal plane in three cases. The indications for bimaxillary distraction are reviewed, including its advantages, disadvantages and limitations.
We are presenting five cases of Goldenhar's syndrome studied at the Clinical Genetics Unit of the Hospital Infantil of México. We do not know exactly the type of inheritance of this congenital malforamtion; in one of our cases, it seems to be related to advanced paternal age. We can consider the possibility of autosomal dominant neomutation.
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Four patients with clinical features of Goldenhar-Gorlin syndrome who showed facial paralysis on clinical examination are presented. The fourth case died following surgery for cleft lip. Autopsy revealed hypoplasia of the right facial nerve in its intracranial segment, with small right facial nucleus in the brain stem. Nosological aspects of the Goldenhar-Gorlin syndrome are discussed. Peripheral facial paralysis, as a part of this syndrome, is reviewed in the light of clinical and pathological findings and in its relationship to cardiac anomalies. It is suggested that Goldenhar-Gorlin syndrome is a part of a so-called cardiofacial syndrome.
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Three members of a family present definite features of the oculodentodigital (ODD) dysplasia and one presents only a few features. The mother shows no clinical evidence of the syndrome but does have an isolated cleft of the palate. The syndrome is compatible with Mendelian autosomal dominant inheritance with father-to-son transmission. The variable expression of the gene in the three affected members is clearly demonstrable.
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