1220 THANATOPHORIC DWARFISM AND THE CLOVERLEAF SKULL

Abstract

The combination of both thanatophoric dwarfism and cloverleaf skull has been reported rarely although each condition separately has been well described. These conditions did occur in a patient who was born to young parents which was the only known case in the family. J.C. was born to a 25 year old Gravida I Para I mother. Multiple anomalies present at birth were: the cloverleaf skull, flat facial features, mild proptosis of the eyes, ears located in the horizontal position, a very small thorax, protuberant abdomen with palpable liver and spleen and very short and bowed extremities with trident shaped hands and stubby feet. The weight was 3.69 kg, length 49.5 cm. and head circumference 36 cm. The baby was extremely hypotonic and expired at 17 days of age. X-rays revealed hypoplasia of the facial bones, pronounced lateral parietal bulges and upward protrusion from the frontal region of the skull and a CT scan revealed generalized hydrocephalus. X-rays of the extremities revealed shortened and bowed long bones and ribs which were described as short with a limited chest cage capacity. The postmortem examination confirmed the clinical findings. Also, there was a left choanal atresia and an ostium secundum defect. There was marked disorganization of bone and cartilage at the growth plate showing severe irregularity at the epiphysis. This case is reported because of the paucity of cases like this in the literature and the family's need for genetic counseling.