Diagnosis
Skeletal abnormalities range from severe phocomelia to minor abnormalities such as clinodactyly and deformity of the carpal bones. Skeletal anomalies include triphalangeal, hypoplastic or absent thumb; syndactyly of the hands; absence of the first metacarpal; fifth finger clinodactyly; extra or deformed carpals; partial or complete absence or synostosis of the radius and ulna; deformation of the scapula, clavicle, and head of the humerus; and deformation of the sternum. There is often asymmetry of the skeletal abnormalities. The commonest cardiac abnormalities are atrial septal defect, which may be associated with arrhythmia, and ventricular septal defect. About one third of patients have other cardiac defects including patent ductus arteriosus, pulmonary stenosis, anomalous pulmonary venous drainage and conduction defects.