PubMed · 1985321
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1991. Metabolic bone disease.. https://pubmed.ncbi.nlm.nih.gov/1985321/
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In industrialized countries the clinical and socioeconomic importance of osteoporosis has been well recognized in recent years. Various treatments have been introduced for secondary prevention in established osteoporosis. There is, however, a deficit in the primary prevention of osteopenia. In every age group physical exercise stimulates mineralization of the bone. With regular training adolescents can achieve a higher peak bone mass. In old age the physiologic decrease of bone mass can be retarded by physical exercise. A diet rich in calcium has positive effects on mineralization of the bone. Estrogens have proved efficacious in the prevention of osteoporosis in postmenopausal women. Abstinence from nicotine and alcohol contributes to the prevention of osteopenia.
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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.