Acrodysostosis, a rare congenital malformation syndrome, is described on the basis of nine new cases and 11 cases from the literature. The major features of the syndrome are peripheral dysostosis, nasal hypoplasia, mental defect, and growth failure. Additional manifestations include premature skeletal maturation in hands, feet, and elbows and some, less constant, abnormalities of spine, mandible, and skull. Hypogenitalism, middle ear infections, and an abundance of pigmented nevi may represent occasional manifestations. The condition is usually recognized at birth or during the first year. The deformities are slowly progressive during the growth period. Neither familial incidence nor parental consanguinity has been encountered. No biochemical defect has been demonstrated.
Robinow M, Pfeiffer RA, Gorlin RJ, McKusick VA, Renuart AW, Johnson GF, Summitt RL. AcrodysostosisA Syndrome of Peripheral Dysostosis, Nasal Hypoplasia, and Mental Retardation. Am J Dis Child. 1971;121(3):195–203. doi:10.1001/archpedi.1971.02100140061002
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