A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents

L. I. Al Gazali; K. Sabrinathan; K. G.R. Nair

doi:10.1097/00019605-199401000-00008

A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents

L. I. Al Gazali
, K. Sabrinathan
, K. G.R. Nair

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

Abstract

We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.

Original language	English
Pages (from-to)	55-62
Number of pages	8
Journal	Clinical Dysmorphology
Volume	3
Issue number	1
DOIs	https://doi.org/10.1097/00019605-199401000-00008
Publication status	Published - 1994

Keywords

Autosomal recessive
Developmental delay
Optic atrophy
Osteogenesis imperfecta
Retinopathy

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Anatomy
Pathology and Forensic Medicine
Genetics(clinical)

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10.1097/00019605-199401000-00008

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title = "A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents",

abstract = "We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.",

keywords = "Autosomal recessive, Developmental delay, Optic atrophy, Osteogenesis imperfecta, Retinopathy",

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AU - Sabrinathan, K.

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AB - We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.

KW - Autosomal recessive

KW - Developmental delay

KW - Optic atrophy

KW - Osteogenesis imperfecta

KW - Retinopathy

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AN - SCOPUS:0028343752

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A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents

Abstract

Keywords

ASJC Scopus subject areas

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