'Disorganization-like syndrome' with 47,XXY and unilateral narrowing of the common iliac artery.
We described a male infant with a spectrum of anomalies compatible with the diagnosis of 'disorganization-like syndrome'. The infant had a partial foot arising from the right buttock, an absent right kidney, and a shortened right leg with severe non-positional talipes equinovarus. The infant's karyotype was 47,XXY. The right common iliac artery was one half of the expected diameter. The limb reduction defect seen in this case of disorganization (Ds) may have had a vascular aetiology.
Woods
C G
CG
Victorian Clinical Genetics Service, Murdoch Institute for Research into Birth Defects, Royal Childrens Hospital, Parkville, Melbourne, Australia.
Treleaven
S
S
Betheras
F R
FR
Sheffield
L J
LJ
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007083:Iliac Artery / Q000002:abnormalities*; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D007713:Klinefelter Syndrome / Q000235:genetics / Q000473:pathology*; D007866:Leg / Q000002:abnormalities*; D008297:Male; D010641:Phenotype; D013577:Syndrome