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PubMed1983

[Report of an atypical case of Goldenhar syndrome].

The authors report an atypical case of Goldenhar syndrome characterized by hemifacial and cranial hypoplasia associated with severe microtia and anophthalmia on the right side, antimongoloid palpebral fissures, epibulbar epidermoid, corneal anesthesia and preauricular tags on the left side. The bilateral presence of characteristic features of Goldenhar syndrome is rare and lends support to the possibility that the patient presents an intermediate form of developmental defect of the first branchial arch. The differential diagnosis is discussed.

Adolescent↗
PubMedDate not supplied

Temporal bone histopathologic findings in oculoauriculovertebral dysplasia. Goldenhar's syndrome.

The right temporal bone of a 6-month-old patient with oculoauriculovertebral dysplasia (Goldenhar's syndrome) was examined histopathologically. The most striking abnormalities were deformity of the auricle, atresia of the external auditory canal, severe malformation of middle ear structures, and incomplete development of the oval window. No inner ear abnormalities were identified in this case.

Goldenhar Syndrome↗
PubMedDate not supplied

Hanhart's syndrome with special reference to temporal bone findings.

We report two cases of Hanhart's syndrome. The first patient was a male who died in the neonatal period, and whose temporal bones were removed, processed, and histologically examined; the findings are presented in this article. The second case concerns a living patient with the typical characteristics of the syndrome. An attempt is made to show that a gross first and second branchial arch anomaly exists in this syndrome and not just the micrognathia that is obvious to the onlooker. Possible causes and classifications of facial dysmorphia are discussed.

Adolescent↗
PubMed1989

Treacher Collins syndrome: an otologic challenge.

Patients with Treacher Collins syndrome have severe middle ear malformations that render operation difficult. We have evaluated 43 patients with Treacher Collins syndrome, on whom only 11 were operated. Computed tomography, the single most important study done preoperatively, routinely showed an underdeveloped temporal bone with islands of bone marrow and absent mastoid pneumatization. The middle ear space was often underdeveloped. Ossicular dysjunction was often noted in which the fused malleus/incus remnant was found 3 to 4 mm distant to the stapes. A common finding was severe dysplasia of the stapes-facial nerve complex that often made the middle ear malformation uncorrectable. Hearing results were much less predictable than in patients with isolated atresia/stenosis of the ear.

Adolescent↗
PubMed1995

Ear surgery in Treacher Collins syndrome.

The autosomal dominant hereditary Treacher Collins syndrome manifests itself phenotypically in dysmorphogenesis of particularly the first, but also the second branchial arch system. Consequently, 50% of patients with Treacher Collins syndrome have a congenital, generally pure conductive hearing loss resulting from a major or minor ear anomaly. The outcome of surgery to improve patients' hearing varies and is sometimes even disappointing. Thorough analysis of 33 cases (39 operated ears) and the strict application of a classification for the anomaly to each ear enabled us to gain insight into the most suitable surgical policy and to form a prognosis for reconstructive ear surgery.

Adolescent↗
PubMed1996

Lesions of the mandibular condyle in juvenile chronic arthritis.

A total of 371 serial dental panoramic radiographs from 71 children with juvenile chronic arthritis (JCA) were examined to determine the presence and extent of radiographically detectable condylar abnormalities. The series included 12 children with so called 'bird face' deformity and 55 in whom facial growth was judged to be normal. By the age of 15 years, 27 patients (38 per cent), showed lesions of the TMJ, of which 14 (55 per cent) were bilateral. Of those cases with unilateral destruction, the left condyle was affected nine times more frequently than the right. All of the children with 'bird face' deformity had condylar abnormality, but these facial characteristics should not be considered pathognomonic of juvenile chronic arthritis. Moderate to severe condylar abnormality was detectable in 10.9 per cent of children with normal facial growth, and where condylar destruction is present it can often be established as early as 8 years. Systemic corticosteroids appear to have little or no effect on the condyle or mandibular growth.

Adolescent↗
PubMed1991

Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy.

Mandibuloacral dysplasia (MAD) is a syndrome characterized by partial lipodystrophy and a distinct phenotype, which includes progressive osteolysis of the mandible and clavicles, cutaneous atrophy, joint contractures, and diabetes mellitus. We now describe the results of hyperinsulinemic glucose clamps performed in conjunction with indirect calorimetry in two subjects with MAD. At a glucose level of 5 mmol/L and insulin concentration of over 6.5 x 10(4) pmol/L, glucose disposal rates were less than 20% of maximum insulin-stimulated glucose disposal in five nondiabetic controls. Basal hepatic glucose output was elevated in the two patients and was incompletely suppressed by a 1200 mU/m2.min infusion of insulin. Glucose and lipid oxidation rates were inappropriately elevated, reflecting marked hypermetabolism. Pharmacological concentrations of insulin failed to normally suppress lipid oxidation, diminish FFA levels, or adequately suppress glucagon levels. In summary, MAD is a unique form of lipodystrophic diabetes characterized by typical somatic features, extreme insulin resistance, and marked hypermetabolism.

Adolescent↗