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Association of ocular disorders, distinctive facies characterized by a flattened nasal bridge, anteverted nares, hypertelorism, myopia, cataracts, and sensorineural deafness. Other clinical features include protruding upper incisors, retinal detachment, glaucoma, and esotropia.

Deafness-Myopia-Cataract-Saddle Nose Syndrome.

Autosomal dominant.

Diagnosis based on clinical examination, familial history, and typical radiograph: absent frontal sinuses; tentorial, falx and meningeal calcifications; flat midface with shallow orbits. Eyes appear prominent with some hypertelorism. Cataracts, congenital glaucoma, myopia, lens dislocation, and retinal detachment have been observed. Sensorineural deafness. Short nose with upturned tip and anteverted nares. May have cleft palate, mental deficiency, and short stature (anomalies of vertebral epiphyses). Associated ectodermal dysplasia has been described.

Check medical treatment of glaucoma: inhibitor of carbonic anhydrase (serum electrolytes), topical beta blockers (consider systemic effects). Careful protection of eyes. Skin padding in case of ectodermal dysplasia.

Stickler Syndrome: Autosomal dominant hereditary progressive arthro-ophthalmology condition characterized by congenital abnormalities of the eye, micrognathia, and cleft palate. Other clinical features include flat midface, intracranial calcifications, and deafness. More than 50% patients affected with this condition have a mitral valve prolapse, and authors have suggested that in the presence of an autosomal dominant inherited mitral valve prolapse, a Stickler syndrome should be suspected until proven otherwise.

Wagner Syndrome: Inherited as an autosomal dominant pattern and characterized by facial abnormalities, an underdeveloped jaw, saddle nose, cleft palate, and vision abnormalities. Joint hyperextensibility and hip deformities may occur. Patients with Wagner syndrome do not have retinal detachment as reported with Marshall and Stickler syndromes. Three types of Wagner syndrome are defined as mild, moderate, or severe.

Weissenbacher-Zweymuller Syndrome (Pierre Robin with Fetal Chondrodysplasia Syndrome): Characterized by neonatal micrognathia and rhizomelic chondrodysplasia with dumbbell-shaped femora and humeri. Other clinical features may include proximal limb shortness, midface hypoplasia, myopia, high incidence of parietal-occipital encephalocele or meningocele, and cleft palate.

Otospondylomegaepiphyseal Dysplasia: Characterized by midfacial hypoplasia, saddle-like nose, deafness, and severe degenerative joint disease of the osteoarthritis type affecting predominantly the hips, knees, elbows, and shoulders.

Stratton RF, Lee B, Ramirez F: Marshall syndrome. Am J Med Genet 41:35, 1991.  [PubMed: 1951461]

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