New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.
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.
Kaler
S G
SG
Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.
Garrity
A M
AM
Stern
H J
HJ
Rosenbaum
K N
KN
Orrison
B M
BM
Marini
J C
JC
Bernardini
I
I
Saal
H M
HM
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