Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance

G Camera; G Ferraiolo; D Leo; A Spaziale; S Pozzolo

doi:10.1136/jmg.30.1.65

Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance

J Med Genet. 1993 Jan;30(1):65-9. doi: 10.1136/jmg.30.1.65.

Authors

G Camera¹, G Ferraiolo, D Leo, A Spaziale, S Pozzolo

Affiliation

¹ Centro di Genetica Umana, Ospedali Galliera, Genoa, Italy.

Abstract

A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / genetics*
Ear / abnormalities
Ectromelia / genetics*
Facial Expression
Female
Femur / abnormalities
Genes, Recessive
Humans
Infant, Newborn
Italy
Male
Pelvic Bones / abnormalities*
Syndrome