Skeletal abnormalities include high-arched
palate, cleft palate, scoliosis, sagittal cleft vertebrae,
vertebral osteopenia, dysplasia of femoral acetabulum, and brachydactyly. Early breast
development is seen in 23% of girls. Congenital heart disease is reported
in approximately one-third of patients, including single ventricle with common atrium,
ventricular septal defect, atrial septal defect, tetralogy of Fallot,
coarctation of the aorta (often juxtaductal), patent ductus arteriosus,
transposition of the great arteries, and right bundle branch block. Hepatic anomalies such
as extrahepatic biliary atresia and neonatal sclerosing cholangitis have been described and
required liver transplantation in some patients.