The Weissenbacher-Zweymüller phenotype in the neonatal period as an expression in the continuum of manifestations of the hereditary arthroophthalmopathies

Abstract

The authors report the case of a female infant who presented with bilateral congenital glaucoma and myopia diagnosed at six weeks. Her facies was flat with a very low nasal bridge and a vascular nevus covering the glabellar area, micrognathia and high arched palate. The limbs appeared shorter proximally and a radiologic skeletal survey revealed dumbbell shaped long bones, flattened acetabular roofs, posterior defects in the vertebral bodies in the thoracic region, platyspon-dyly. Seen in follow-up at nine weeks, 14 months and 24 months, after several goniotomies which successfully controlled her intraocular pressure, she presented with high myopia, moderate hypotonia and hyperextensible joints. The midfacial hypoplasia persisted, but the skeletal X-rays showed that the long bones seem to acquire a more elongated appearance. Her mental and motor development, although five to nine months delayed, reflected regular progress. The clinical findings in this patient suggest that she belongs in the heterogeneous category of ophthalmo-arthropathies described by Weissenbacher and Zweymüller and which is thought to be the neonatal expression of the Stickler syndrome. The need for early recognition of this syndrome and a better grasp of the natural history of these disorders are emphasized in order to support the hypothesis of a continuum of manifestations of the hereditary arthro-ophthalmopathies.

Key Words:

• Weisssenbacher-Zweymüller
• hereditary arthro-ophthalmopathies
• dumbbell shaped long bones
• myopia
• congenital glaucoma
• platyspondyly