Article
New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.
American journal of medical genetics - 1 Aug 1992
Kaler S G, Garrity A M, Stern H J, Rosenbaum K N, Orrison B M, Marini J C, Bernardini I, Saal H M
Abstract excerpt
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 osteog...
Topics
- Bone Diseases, Metabolic
- Child
- Child, Preschool
- Consanguinity
- Ethnicity
- Female
- Genes, Recessive
- Hair
- Humans
- Intellectual Disability
- Osteogenesis Imperfecta
- Pedigree
- Phenotype
- Syndrome