Autosomal dominant; M <F

Associated with CHD: secundum type ASD (most common), VSD, persistent left SVC, tetralogy, CoA

• intermittent cardiac arrhythmia; bradycardia (50–60/min)

Location: upper extremity only involved; symmetry of lesions is the rule; left side may be more severely affected

• aplasia / hypoplasia of radial structures: thumb, 1^st metacarpal, carpal bones, radius
• absent / “fingerized” hypoplastic / triphalangeal thumb
• slender elongated hypoplastic carpals + metacarpals
• hypoplastic radius; absent radial styloid
• shallow glenoid fossa → voluntary dislocation of shoulder (common)
• hypoplastic clavicula
• high arched palate
• cervical scoliosis
• pectus excavatum