New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis

L Giuffrè, G Corsello, M Giuffrè, M Piccione, A Albanese
American Journal of Medical Genetics 1994 July 1, 51 (3): 266-9
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).

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