title: New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.
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.
authors.affiliation: Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.
authors.forename: S G
authors.initials: SG
authors.lastname: Kaler
authors.forename: A M
authors.initials: AM
authors.lastname: Garrity
authors.forename: H J
authors.initials: HJ
authors.lastname: Stern
authors.forename: K N
authors.initials: KN
authors.lastname: Rosenbaum
authors.forename: B M
authors.initials: BM
authors.lastname: Orrison
authors.forename: J C
authors.initials: JC
authors.lastname: Marini
authors.forename: I
authors.initials: I
authors.lastname: Bernardini
authors.forename: H M
authors.initials: HM
authors.lastname: Saal
mesh_terms: D001851:Bone Diseases, Metabolic / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005006:Ethnicity; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome