[ new case of acro-cardio-facial syndrome: further evidence for clinical variability]

ABSTRACT

We are reporting a 25 year old man with minor facial and genital anomalies and bilateral ectrodactyly. His parents are first cousins and are both healthy. Facial manifestations included hypertelorism, short down-slanted palpebral fissures, small low-set ears and high forehead. Genital anomalies were undescended right testicle, micropenis and hypospadias. There were four fingers in both hands with a feature of cleft deformity and bone hypoplasia. His sister died four days after birth with severe limb defects and imperforate anus