Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
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.
Corsello
G
G
Istituto Materno-Infantile Università di Palermo, Italy.
Albanese
A
A
Piccione
M
M
Giuffrè
M
M
Opitz
J M
JM
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D004392:Dwarfism / Q000000981:diagnostic imaging; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D011859:Radiography