New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis.
To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1).
Giuffrè
L
L
Istituto Materno Infantile, Università di Palermo, Italy.
Corsello
G
G
Giuffrè
M
M
Piccione
M
M
Albanese
A
A
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013484:Supination; D013577:Syndrome; D013580:Synostosis / Q000235:genetics*; D014457:Ulna / Q000002:abnormalities*