Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
作者信息
Corsello G, Albanese A, Piccione M, Giuffrè M, Opitz J M
机构信息
Istituto Materno-Infantile Università di Palermo, Italy.
出版信息
Am J Med Genet. 1996 Dec 18;66(3):265-8. doi: 10.1002/(SICI)1096-8628(19961218)66:3<265::AID-AJMG5>3.0.CO;2-O.
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.
摘要
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