@entity2194 : a new entity with XXXX , @entity231 , @entity1713 , @entity170 , and platyspondyly.

@entity1 @entity2194 @entity2597 @entity1522 @entity231 @entity1713 @entity36367 @entity170 @entity4712 @entity600 @entity6484 @entity74
PURPOSE: To define a new clinical entity in a consanguineous family with six @entity1 affected by @entity2194 , including @entity231 , @entity600 , @entity1713 , @entity170 , and platyspondyly. To analyze candidate genes of @entity2597 as a possible underlying disorder and to demonstrate especially the ocular phenotype. DESIGN: Observational case series. METHODS: Consanguineous parents, one unaffected sibling and five affected @entity1 with clinical features of spondylo-ocular syndrome, were demonstrated. Clinical examination, radiologic, laboratory, and cytogenetic as well as moleculargenetic analyses were performed. The segregation of flanking marker alleles of three collagen genes and the interval for @entity36367 were analyzed. Two microsatellite markers located within Pax6CA/GT region were tested for homozygosity. RESULTS: On laboratory investigation a normal excretion of @entity1522 , mucopolysaccharides, and oligosaccharides could be found. The karyotype was normal. Complete radiologic examination in one index @entity1 revealed a generalized moderate @entity170 , platyspondyly with fish bone appearance, and greatly enlarged intervertebral spaces. The candidate genes known to be in @entity4712 as well as linkage to the @entity36367 candidate region could be excluded. None of the affected showed homozygosity for the @entity6484 microsatellite markers. CONCLUSIONS: We conclude that the phenotype and the clinical features in this family defines a new @entity74 . It remains to be seen what kind of molecule shared by eye and bone is involved.
