Acrodysostosis in two generations: an autosomal dominant syndrome.
Acrodysostosis is a rare syndrome characterized by growth retardation, peripheral dysostosis and mental deficiency. X-rays reveal generalized shortening of metacarpals, metatarsals and phalanges, hyperplasia of the first ray of the feet and premature skeletal maturation. Occasionally abnormal interpedicular spinal spaces, increased mandibular angle and hearing loss have been observed. We report a 19-year-old woman and her daughter examined at birth and subsequently at 6 years of age. The clinical and radiological characteristics are those of acrodysostosis. The syndrome is easily recognized at birth. The generalized corporal shortening is progressive and could be due to premature closing of epiphyses. The finding of an affected mother and her daughter support the postulate that acrodysostosis is inherited as an autosomal dominant syndrome.
Hernández
R M
RM
Department of Medical Genetics, General Hospital S.S., Mexico City, Mexico.
Miranda
A
A
Kofman-Alfaro
S
S
D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging / Q000235:genetics*; D025063:Chromosome Disorders; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging / Q000235:genetics; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D013577:Syndrome