Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
- PMID: 8985484
- 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?
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.
Comment in
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Osteodysplastic primordial dwarfism (ODPD): notes on brain imaging.Am J Med Genet. 1998 Oct 30;80(1):90-1. Am J Med Genet. 1998. PMID: 9800914 No abstract available.
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