6533b7dbfe1ef96bd12714d8
RESEARCH PRODUCT
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
Maria PiccioneJohn M. OpitzGiovanni CorselloAchille AlbaneseMario Giuffrèsubject
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 organsdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1996-12-18 | American journal of medical genetics |