Document Detail


New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.
MedLine Citation:
PMID:  1415349     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on 2 Mennonite sisters with a syndrome of sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity, and hypotonia. Their asymptomatic consanguineous parents (inbreeding coefficient F = 1/64) have 6 other offspring, 3 of whom died in infancy of type II osteogenesis imperfecta (OI), and 3 of whom are normal. We analyzed collagens synthesized by cultured fibroblasts from these 2 sisters and their parents and detected no major abnormalities. Results of chromosomal and metabolic evaluations including amino acid analysis of plasma, urine, and hair were unremarkable. A literature search and survey of a computerized syndrome identification database did not disclose an identical phenotype. The sisters bear superficial resemblance to several known syndromes which we excluded on clinical and/or biochemical grounds. We conclude that they represent a new autosomal recessive syndrome, distinct from type II OI and perhaps unique to the Mennonite population or to this particular family.
Authors:
S G Kaler; A M Garrity; H J Stern; K N Rosenbaum; B M Orrison; J C Marini; I Bernardini; H M Saal
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  43     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1992 Aug 
Date Detail:
Created Date:  1992-11-13     Completed Date:  1992-11-13     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  983-8     Citation Subset:  IM    
Affiliation:
Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.
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MeSH Terms
Descriptor/Qualifier:
Bone Diseases, Metabolic / genetics*
Child
Child, Preschool
Consanguinity
Ethnic Groups
Female
Genes, Recessive
Hair / abnormalities*
Humans
Mental Retardation / genetics*
Osteogenesis Imperfecta / classification,  genetics
Pedigree
Phenotype
Syndrome

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


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