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New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters

✍ Scribed by Kaler, Stephen G. ;Garrity, Ann M. ;Stern, Harvey J. ;Rosenbaum, Kenneth N. ;Orrison, Bonnie M. ;Marini, Joan C. ;Bernardini, Isa ;Saal, Howard M.

Book ID: 102700923
Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 585 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430615

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✦ Synopsis

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 I1 osteogenesis imperfecta (011, 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 I1 01 and perhaps unique to the Mennonite population or to this particular family.

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