1/66. Congenital facial neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).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.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/66. Frontonasal dysostosis in two successive generations.Frontonasal dysostosis (also called frontonasal "dysplasia") comprises ocular hypertelorism, median facial cleft affecting nose and/or upper lip, unilateral or bilateral cleft of the alae nasi, anterior cranium bifidum occultum, or a widow's peak. Usually it is a sporadic disorder, although a few familial cases have been reported. We describe a 2-year-old girl with anterior cranium bifidum occultum, lipoma of genu and anterior part of the corpus callosum, and hypertelorism. Her mother had a history of a nasal drip at birth caused by a defect in the cribriform plate and phenotypically, a widow's peak. This observation suggests either autosomal dominant or X-linked dominant inheritance. The family illustrates the importance of identifying mild expression of frontonasal dysostosis before genetic counseling.- - - - - - - - - - ranking = 300.49586179676keywords = median (Clic here for more details about this article) |
3/66. Nasal abnormalities in facial clefts.After a short review of their development rare clefts of the nose occurring together with facial clefts are described in a number of clinical cases. These may be divided into 6 groups: 1. clefts of the nose; 2. oblique facial clefts; 3. nasal abnormalities in cleft lip and palate cases; 4. nasal abnormalities in median cleft palate cases; 5. aplasia of the premaxilla; 6. syndromes associated with nasal abnormalities and facial clefts. The discussion deals with the literature, aetiology, prognosis and therapeutic aspects. The publication of individual rare cases is suggested.- - - - - - - - - - ranking = 300.49586179676keywords = median (Clic here for more details about this article) |
4/66. Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome.A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral hemispheres, due to congenital obstructive hydrocephalus, and secondary thinning of the corpus callosum. An unusually large neuronal hamartoma filled the interpeduncular fossa and third ventricle. It was continuous posteriorly with the left thalamus and so was classified as diencephalic rather than as hypothalamic. The right optic nerve merged with the hamartoma, whereas the left nerve was absent. Microscopically the hamartoma consisted of mature grey matter interspersed with narrow bands of white matter. No immature or non-neural elements were identified. This combination of diencephalic neuronal hamartoma, hydrocephalus, ocular and craniofacial abnormalities has not, to our knowledge, previously been described.- - - - - - - - - - ranking = 2keywords = nerve (Clic here for more details about this article) |
5/66. Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41.The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family.- - - - - - - - - - ranking = 300.49586179676keywords = median (Clic here for more details about this article) |
6/66. Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?The generic term median facial dysplasia (MFD) describes a subgroup of patients with cleft lip and palate exhibiting characteristic craniofacial defects: (1) short prolabium, (2) absence of frenulum labii, (3) hypoplasia of premaxilla, (4) absent upper central and lateral incisors of the cleft side, and (5) deficient septal cartilage and nasal spine. Gross brain malformations are usually absent in MFD. The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE-S). We report on two male patients with bilateral cleft lip and palate showing the facial findings of MFD or HPE-S. Additional congenital malformations were anal atresia in one patient and severe cardiac defect in the other. In both, HPE was excluded by brain imaging, although uncommon brain anomalies were detected consisting of multiple white-matter lesions in the one patient and unusual enlargement and tortuosity of intracerebral blood vessels in both patients. In addition to facial anomalies, the patients also had psychiatric problems typically seen in velo-cardio-facial syndrome (VCFS). fluorescence in situ hybridization (FISH) analysis confirmed a 22q11.2 microdeletion in both.- - - - - - - - - - ranking = 1502.4793089838keywords = median (Clic here for more details about this article) |
7/66. A case of false median cleft of upper lip with IV-A holoprosencephaly that underwent cheiloplasty at 2.5 years of age.holoprosencephaly results from the incomplete development of midline structures within the cerebrum and encompasses a series of abnormalities of mid-facial development. Here, we report a case of male holoprosencephaly associated with false median cleft of upper lip. This patient belonged clinically to the DeMyer's group IV holoprosencephaly, semilobar type. An infant with this type of holoprosencephaly has been thought to die generally within 1 to 2 years after birth and to rarely benefit from an operation. In this case, the patient had cheiloplasty at the age of 2.5 years at the request of his parents and he lives currently, being 3 years and 2 months old.- - - - - - - - - - ranking = 1502.4793089838keywords = median (Clic here for more details about this article) |
8/66. Pai syndrome: a report of a case and review of the literature.Pai syndrome is a rare congenital disorder first described in 1987. The main clinical features of the syndrome include median cleft of the upper lip, intra-cranial lipoma, and cutaneous polyps. Only four cases have been described previously. This is the fifth who is a twin of Arabian descent to be reported. Full description of the clinico-pathological features and a review of the relevant medical literature is presented. To the best of our knowledge, this is the first case of Pai syndrome in a twin in the English literature.- - - - - - - - - - ranking = 300.49586179676keywords = median (Clic here for more details about this article) |
9/66. blindness as a complication of Le Fort I osteotomy for maxillary distraction.High Le Fort I osteotomy and maxillary distraction has become an accepted method for the treatment of maxillary retrusion in children and teenagers with cleft lip and palate or craniofacial anomalies. This procedure effectively corrects the dentofacial deformity in these patients. No major surgical morbidity has been reported. During the past 4 years, 94 cleft patients with maxillary hypoplasia received Le Fort I osteotomy and distraction osteogenesis at the authors' center. Two of them developed blindness after this operation. The first case was a girl with bilateral cleft lip and palate with median facial dysplasia. She received high Le Fort I osteotomy at age 12 years 4 months to correct maxillary retrusion. Right eye swelling and ecchymosis was found after surgery. The patient complained of vision loss in that eye 2 days later. Computed tomography showed subarachnoid hemorrhage and skull base hematoma. There were no atypical fractures in the orbit, pterygoid plates, sphenoid bone, and skull base. Angiogram revealed left ophthalmic and basilar artery aneurysm. The second case was a 12-year-old boy with left cleft lip and palate. He received Le Fort I osteotomy to correct maxillary retrusion. During surgery, abnormal pupil dilatation was found after the osteotomy and down-fracture of maxilla. Emergent computed tomography found no hemorrhage or atypical fractures. Examination revealed complete left optic neuropathy and partial right abducens nerve palsy with mydriasis. magnetic resonance imaging, magnetic resonance angiography, and repeated computed tomography revealed no sign of orbital injury, vascular problem, or abnormal fractures. The cause of blindness was unknown. In both cases, a steroid was used. Maxillary distraction was continued. Recovery of meaningful visual sense did not occur after 3 and 2 years' follow-up, respectively. A review of the literature revealed five other patients who suffered from visual loss after Le Fort I osteotomy. Inadvertent skull base fractures were identified in two cases, but a cause for the blindness was not known in the others. Induced hypotension and indirect trauma may be responsible for the optic nerve injury. In none of the cases was meaningful visual sense recovered, although high-dose steroids were given. In conclusion, a total of seven cases developed blindness after Le Fort I osteotomy. Once blindness develops, the prognosis is poor. High Le Fort I osteotomy should be performed with extreme care, and perhaps the informed consent should include visual loss as a complication of the procedure.- - - - - - - - - - ranking = 302.49586179676keywords = median, nerve (Clic here for more details about this article) |
10/66. Tassier cleft no 30 (median cleft from lower lip to manubrium).One-year-old female presented with cleft of lower lip, mandible, fissured tongue, absent hyoid bone, cleft of manubrium sterni, later is detected clinically by suprasternal bulge at suprasternal region while crying. It is radiologically detected by wide apart medial end of clavicle. This is extremely rare anomaly known as Tassier Cleft no 30.- - - - - - - - - - ranking = 1201.983447187keywords = median (Clic here for more details about this article) |
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