Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs

I Lorda-Sanchez; M J Trujillo; A Gimenez; B Garcia-Sandoval; A Franco; R Sanz; M Rodriguez de Alba; C Ramos; C Ayuso

doi:10.1076/opge.20.2.127.2289

Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs

Ophthalmic Genet. 1999 Jun;20(2):127-31. doi: 10.1076/opge.20.2.127.2289.

Authors

I Lorda-Sanchez¹, M J Trujillo, A Gimenez, B Garcia-Sandoval, A Franco, R Sanz, M Rodriguez de Alba, C Ramos, C Ayuso

Affiliation

¹ Service of Genetics, Fundación Jimenez-Diaz, Madrid, Spain.

PMID: 10420199
DOI: 10.1076/opge.20.2.127.2289

Abstract

We present two siblings with retinitis pigmentosa, mental retardation, markedly short stature, and brachydactyly. This association of clinical findings appears to be distinct from previously described syndromes and seems to represent the pleiotropic effects of a single autosomal recessive gene.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Female
Foot Deformities, Congenital / genetics*
Foot Deformities, Congenital / pathology
Growth Disorders / genetics*
Hand Deformities, Congenital / diagnostic imaging
Hand Deformities, Congenital / genetics*
Hand Deformities, Congenital / pathology
Humans
Intellectual Disability / genetics*
Male
Middle Aged
Radiography
Retinitis Pigmentosa / genetics*