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A female case of Sedaghatian type spondylometaphyseal dysplasia

A female case of Sedaghatian type spondylometaphyseal dysplasia
A female case of Sedaghatian type spondylometaphyseal dysplasia
Sedaghatian type spondylometaphyseal dysplasia is a rare osteochondrodysplasia first described in 1980. The original report describes an Iranian infant with mild rhizomelic limb shortening, severe metaphyseal cupping and irregularity and platyspondyly who died shortly after birth. The baby was born to a consanguineous couple who had reportedly had two similarly affected infants, one male and one female. No documented radiology is available on the female infant. Since this publication, 10 further case reports of male infants with this condition have appeared in the literature all of whom have died shortly after birth. We report a fully documented female case of Sedaghatian type spondylometaphyseal dysplasia providing further evidence to support an autosomal recessive mechanism of inheritance.
spondylometaphyseal dysplasia Sedaghatian type, lethal skeletal dysplasia, autosomal recessive inheritance, pleiotropic gene defect
1552-4825
377-381
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e
Fairhurst, Jo
95c77644-208e-4215-9b3e-444f0cc11ae8
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Cade, Steven
de79fd79-97ff-4241-8616-83389c19d133
Groves, Charlotte
b40e0129-7d5d-4757-a4c9-14b263d8f4d7
Lancaster, Tessa
21c000c1-e77b-4bd9-955d-f609bcaae215
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e
Fairhurst, Jo
95c77644-208e-4215-9b3e-444f0cc11ae8
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Cade, Steven
de79fd79-97ff-4241-8616-83389c19d133
Groves, Charlotte
b40e0129-7d5d-4757-a4c9-14b263d8f4d7
Lancaster, Tessa
21c000c1-e77b-4bd9-955d-f609bcaae215

Foulds, Nicola, Fairhurst, Jo, Temple, I. Karen, Cade, Steven, Groves, Charlotte and Lancaster, Tessa (2003) A female case of Sedaghatian type spondylometaphyseal dysplasia. American Journal of Medical Genetics part A, 118A (4), 377-381. (doi:10.1002/ajmg.a.10199).

Record type: Article

Abstract

Sedaghatian type spondylometaphyseal dysplasia is a rare osteochondrodysplasia first described in 1980. The original report describes an Iranian infant with mild rhizomelic limb shortening, severe metaphyseal cupping and irregularity and platyspondyly who died shortly after birth. The baby was born to a consanguineous couple who had reportedly had two similarly affected infants, one male and one female. No documented radiology is available on the female infant. Since this publication, 10 further case reports of male infants with this condition have appeared in the literature all of whom have died shortly after birth. We report a fully documented female case of Sedaghatian type spondylometaphyseal dysplasia providing further evidence to support an autosomal recessive mechanism of inheritance.

Full text not available from this repository.

More information

Published date: 1 May 2003
Additional Information: Clinical Report
Keywords: spondylometaphyseal dysplasia Sedaghatian type, lethal skeletal dysplasia, autosomal recessive inheritance, pleiotropic gene defect

Identifiers

Local EPrints ID: 24702
URI: http://eprints.soton.ac.uk/id/eprint/24702
ISSN: 1552-4825
PURE UUID: 19d5b9cb-1459-45a3-a744-6db21808bb0f
ORCID for I. Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 03 Apr 2006
Last modified: 07 Oct 2020 01:42

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