Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome

We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vi sion due to retinal detachment, facial dysmorphism, facial hypotonia, norma l height with disproportional short trunk, immobile spine with thorakal kyp hosis and reduced lumbal lordosis. On ophthalmological examination of the i ndex patient, a dense cataract and complete retinal detachment could be det ected on the right eye. On the left eye, an absent lens nucleus was found, but no retinal detachment. On radiological examination, there was generaliz ed moderate osteoporosis; the spine showed marked platyspondyly and the bon e age was advanced. On laboratory investigations, a normal excretion of ami no acids, mucopolysaccharides and oligosaccharides could be found. The phen otypical spectrum observed in the 6 affected individuals was rather uniform . The karyotype was normal in all affected children. This hitherto undescri bed combination of oculo-skeletal symptoms shows most resemblance with conn ective tissue disorders, suggesting a range of candidate genes for mutation analysis.