HIGHLIGHTS
SUMMARY
Interstitial deletions involving terminal 17q12 (17q12qterm) are rare chromosomal abnormalities associated with variable phenotypes. The authors report a new case of PBS associated with 17q12 microdeletion, and the authors review the literature. Echocardiogram showed a small patent ductus arteriosus and patent foramen ovale, and a neurosonogram was normal. 10% of PBS cases have associated cardiac anomalies: septal defects, tetralogy of Fallot, and patent ductus arteriosus. Musculoskeletal abnormalities, usually lower extremities: club feet, congenital hip dislocation, and hypoplasia of the leg or foot, were seen in 5% of the PBS cases. Higher incidence in males . . .
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