Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: Long term survival and documentation of the natural history

We report on a male infant born with clinical and radiographic evidence of a lethal form of dyssegmental dysplasia not comparable to Silverman‐Handmaker type, who had a prolonged survival of more than eight months. He had ocular and central nervous system abnormalities which have not been previously...

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Bibliographic Details
Published in:American journal of medical genetics 1998-01, Vol.75 (2), p.164-170
Main Authors: Prabhu, Vishwanath G., Kozma, Chahira, Leftridge, Clifton A., Helmbrecht, Gary D., France, Margaret L.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnostic imaging
Abnormalities, Multiple - mortality
Adolescent
Adult
anisospondyly
anticipatory guidance
Biological and medical sciences
Consanguinity
Diseases of the osteoarticular system
Druze
Dwarfism - diagnostic imaging
Dwarfism - mortality
dyssegmental dysplasia
hemivertebrae
Humans
Infant
Infant, Newborn
Lebanon - ethnology
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - mortality
Radiography
Silverman-Handmaker type
Syndrome
vertebral segmentation defects
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Summary:We report on a male infant born with clinical and radiographic evidence of a lethal form of dyssegmental dysplasia not comparable to Silverman‐Handmaker type, who had a prolonged survival of more than eight months. He had ocular and central nervous system abnormalities which have not been previously described. His course included significant feeding and respiratory difficulties, severe physical and psychomotor retardation, and recurrent fever of unknown etiology believed to be of central origin. The relatively long survival of this infant enabled us to focus on the natural history of this rare syndrome. The infant was born to first cousin parents of Druze Lebanese origin supporting an autosomal recessive mode of inheritance for the condition. This is the first documentation of dyssegmental dysplasia Silverman‐Handmaker type in a family of Druze Lebanese ethnicity. Am. J. Med. Genet. 75:164–170, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19980113)75:2<164::AID-AJMG8>3.0.CO;2-T