pondylo-ocular yndrome: a new entity with crytalline len malformation, cataract, retinal detachment, oteoporoi, and platypondyly

Purpoe To define a new clinical entity in a conanguineou family with ix children affected by a pondylo-ocular yndrome, including cataract, crytalline len malformation, retinal detachment, oteoporoi, and platypondyly. To analyze candidate gene of connective tiue diorder a a poible underlying diorder and to demontrate epecially the ocular phenotype. Deign Obervational cae erie. Method Conanguineou parent, one unaffected ibling and five affected children with clinical feature of pondylo-ocular yndrome, were demontrated. Clinical examination, radiologic, laboratory, and cytogenetic a well a moleculargenetic analye were performed. The egregation of flanking marker allele of three collagen gene and the interval for oteoporoi-peudoglioma yndrome were analyzed. Two microatellite marker located within Pax6CA/GT region were teted for homozygoity. Reult On laboratory invetigation a normal excretion of amino acid, mucopolyaccharide, and oligoaccharide could be found. The karyotype wa normal. Complete radiologic examination in one index patient revealed a generalized moderate oteoporoi, platypondyly with fih bone appearance, and greatly enlarged intervertebral pace. The candidate gene known to be in tickler yndrome a well a linkage to the oteoporoi-peudoglioma yndrome candidate region could be excluded. None of the affected howed homozygoity for the Pax6 microatellite marker. Concluion We conclude that the phenotype and the clinical feature in thi family define a new Mendelian diorder. It remain to be een what kind of molecule hared by eye and bone i involved.