0000000000384439

AUTHOR

Achille Albanese

showing 2 related works from this author

Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?

1996

A new type of osteodysplastic primordial dwarfism is delineated in a 5- year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.

media_common.quotation_subjectgrowth retardationDwarfismDwarfismGenes RecessiveOsteodysplastic primordial dwarfismBiologyBone and BonesCraniofacial AbnormalitiesConsanguinitymedicineHumansAbnormalities MultipleGirlGenetics (clinical)media_commonGeneticsAutosomal recessive inheritanceGrowth retardationautosomal recessive inheritancemedicine.diseasePrenatal onsetOsteochondrodysplasiaRadiographyChild Preschoolosteodysplastic primordial dwarfismFemalesense organsAmerican journal of medical genetics
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New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis

1994

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.

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