title: Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
abstract: A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance.
authors.affiliation: Centro di Genetica Umana, Ospedali Galliera, Genoa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Camera
authors.forename: G
authors.initials: G
authors.lastname: Ferraiolo
authors.forename: D
authors.initials: D
authors.lastname: Leo
authors.forename: A
authors.initials: A
authors.lastname: Spaziale
authors.forename: S
authors.initials: S
authors.lastname: Pozzolo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D004480:Ectromelia / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D005269:Femur / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D010384:Pelvic Bones / Q000002:abnormalities*; D013577:Syndrome