Phalangeal acroosteolysis associated with Down syndrome.
This report described a case of acroosteolysis of phalangeal type associated with regular Down syndrome. The findings of the present case overlapped those of familial or idiopathic acroosteolysis previously reported by others. Study of the patient's family uncovered consanguineous marriage of the parents and affection of his brother, suggesting affection was the result of homozygosity for an autosomal recessive gene. Similarities of findings of the digits among acroosteolysis, pyknodysostosis and Down syndrome were discussed.
D001862:Bone Resorption / Q000150:complications*; D002648:Child; D003241:Consanguinity; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010005:Osteoarthropathy, Secondary Hypertrophic / Q000209:etiology* / Q000235:genetics; D010014:Osteolysis / Q000150:complications*; D010375:Pedigree