Document Detail


Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review.
MedLine Citation:
PMID:  8039795     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Roberts syndrome is a rare autosomal recessive disorder with highly variable clinical features. The most notable manifestations include pre- and postnatal growth retardation, craniofacial anomalies and improper development of all four extremities. We reviewed 50 cases whose clinical evaluation has been vigorously pursued. A relationship of deformities exists between humerus versus femur, and radius and ulna versus tibia and fibula. Only six cases had clubfoot. The number of fingers and toes was variable. The sex ratio was 1:1. Most individuals died in early infancy, although the longest follow-up survival was 13 years in one case. Premature centromere separation, centromere splitting and puffing were common chromosomal abnormalities. An annotated bibliography on notable cases is also provided which should serve as an aid for clinicians who wish to further understand the genetic and clinical heterogeneity noted in their cases.
Authors:
A K Sinha; R S Verma; V J Mani
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Human heredity     Volume:  44     ISSN:  0001-5652     ISO Abbreviation:  Hum. Hered.     Publication Date:    1994 May-Jun
Date Detail:
Created Date:  1994-08-19     Completed Date:  1994-08-19     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0200525     Medline TA:  Hum Hered     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  121-6     Citation Subset:  IM    
Affiliation:
Department of Orthopedic Surgery, Ottawa General Hospital, University of Ottawa, Canada.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Female
Humans
Limb Deformities, Congenital
Male
Osteochondrodysplasias / genetics*
Syndrome
Comments/Corrections
Comment In:
Hum Hered. 1995 Jul-Aug;45(4):241-2   [PMID:  7558058 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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