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.
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