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RESEARCH PRODUCT

New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis

Giovanni CorselloAchille AlbaneseL. GiuffreMario GiuffrèMaria Piccione

subject

AdultMaleMicrocephalyAdolescentUlnaSupinationMedicineHumansAbnormalities MultiplemicrocephalyChildGenetics (clinical)Genes Dominantradioulnar synostosisbusiness.industryfungiInfantAnatomySyndromeSynostosisMiddle Agedmedicine.diseasePedigreeautosomal dominant inheritanceRadiusSynostosisRadioulnar synostosisFemaleCongenital diseasebusinessHand Deformities Congenital

description

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). © 1994 Wiley-Liss, Inc.

yearjournalcountryeditionlanguage
1994-07-01
10.1002/ajmg.1320510319http://hdl.handle.net/10447/432691