New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.
Am J Med Genet
; 43(6): 983-8, 1992 Aug 01.
Article
em En
| MEDLINE
| ID: mdl-1415349
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Doenças Ósseas Metabólicas
/
Cabelo
/
Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
Idioma:
En
Ano de publicação:
1992
Tipo de documento:
Article