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

Citation
H. Schmidt et al., Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome, CLIN GENET, 59(2), 2001, pp. 99-105
Citations number
12
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
0009-9163 → ACNP
Volume
59
Issue
2
Year of publication
2001
Pages
99 - 105
Database
ISI
SICI code
0009-9163(200102)59:2<99:RDACFD>2.0.ZU;2-0
Abstract
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.