Antenatal detection of recurrence of Majewski dwarf (short rib-polydactyly syndrome type II Majewski).
Two cases of Majewski dwarfism are reported. both were the product of the same non-consanguinous marriage and each exhibited the key features of this syndrome: polysyndactyly, short ribs, cleft lip, disproportionately short tibiae and a normal pelvis. The first infant, a baby boy, died shortly after birth, whilst the second was detected prenatally by ultrasound and had female characteristics. Several skeletal dysplasias have been demonstrated in utero by ultrasound, but we believe this to be the first reported case of a Majewski dwarf detected by this method. In view of the difficulty in diagnosis of this syndrome comparison is made with other short rib-polydactyly syndromes.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012272:Ribs / Q000002:abnormalities*; D013576:Syndactyly / Q000175:diagnosis*; D013577:Syndrome; D014463:Ultrasonography