title: Cryptomicrotia and short, stubby fingers with excess fingertip arch patterns in a mother and son.
abstract: We describe a malformation syndrome of bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch patterns in a chromosomally and mentally normal mother and son. Familial occurrence of this malformation complex has not been described previously and the manifestations of the patients do not correspond to those of any known malformation syndromes. The disorder in this family may be attributable to the pleiotropic effect of an autosomal or an X-linked dominant gene.
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Tonoki
authors.forename: T
authors.initials: T
authors.lastname: Ohura
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome