Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance.
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Centro di Genetica Umana, Ospedali Galliera, Genoa, Italy.
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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