New autosomal recessive form of amelia.
Amelia is a rare, usually sporadic malformation. We report on a family in which three fetuses had amelia of the upper limbs and variable deficiency of the lower limbs. The fetuses also had minor facial anomalies. Recurrence of the condition in sibs of both sexes suggests autosomal recessive inheritance. Recurrent amelia has been documented in only a few families most often associated with a different set of malformations. Possibly, mutations in more than one gene with different modes of transmission can lead to this severe limb deficiency. We speculate that the mutation found in our cases interferes with formation of the apical ectodermal ridge in the upper limbs and results in its premature degeneration in the lower limbs.
Michaud
J
J
Department of Pediatrics, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
Filiatrault
D
D
Dallaire
L
L
Lambert
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000028:Abortion, Induced; D004476:Ectodermal Dysplasia / Q000235:genetics; D004480:Ectromelia / Q000235:genetics* / Q000473:pathology; D005145:Face / Q000002:abnormalities / Q000473:pathology; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011247:Pregnancy