Weissenbacher-zweymuller syndrome

General: Probably neonatal expression of Stickler syndrome 454e43e ; autosomal dominant.

Ocular: Myopia; congenital glaucoma; cloudy cornea; buphthalmos; Descemet membrane tears; retinal detachment; cataracts.

Clinical: Flattened occiput; flat facies; low nasal bridge; anteverted nostrils; flat vascular nevus-covered glabellar area; small mouth with protruding tip of tongue; high-arched palate; short neck; limbs shorter proximally; dumbbell-shaped long bones; posterior defects in vertebral bodies thoracic region; platyspondylic evidence of coronal cleft lumbar area; deafness; small size at birth; mid face hypoplasia; parietooccipital encephalocele; hearing loss; dwarfism.

Galil A, et al. Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development. Dev Med Child Neurol 1991; 33:1104-l109.

Ramer JC, et al. Identical twins with Weissenbacher-Zweymuller syndrome and neural tube defect. Am J Med Genet 1993; 45:614-618.

Scribanu N, et al. The Weissenbacher-Zweymuller phenotype in the neonatal period as an expression in the continuum of manifestations of the hereditary arthro-ophthalmopathies. Ophthalmic Paediatr Genet 1987; 8:159-l63.

Weissenbacher G, Zweymuller E. Gleichzeitiges Vorkommen Eines Syndroms von Pierro Robin und einer Fetalen Chondrodysplasie. Mschr Kinderheilkd 1964; 112:315-317.

Winter RM, et al. The Weissenbacher-Zweymuller and Marshall syndromes: further evidence for their identity. Am J Med Genet 1983; 16:189-l99.