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Case Reports
. 1996 Dec 18;66(3):265-8.
doi: 10.1002/(SICI)1096-8628(19961218)66:3<265::AID-AJMG5>3.0.CO;2-O.

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

G Corsello  1 , A Albanese, M Piccione, M Giuffrè, J M Opitz
Affiliations
Case Reports

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

G Corsello et al. Am J Med Genet. .

Abstract

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.

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