A full-term infant with type II thanatophoric dysplasia

Abstract

Abstract Objectives To report a neonate with clinical findings consistent with thanatophoric dysplasia (TD). Only a few cases of this rare and lethal skeletal disorder have been reported in South-East Asia. Case presentation A 37-year-old Asian female, fourth gravida at 39 weeks, presented to our hospital for an elective cesarean section due to polyhydramnios, frank breech and gestational hypertension. The father was a 42-year-old Asian male. There was no history of rashes, fever, alcohol intake, substance drug abuse, smoking habit or radiation exposure. Ultrasound (US) of 34-weeks’ gestation found a baby with frontal bossing, prominent temporal lobe, clover-skull and low nasal bridge. The thoracic diameter was smaller than the abdominal diameter. Short limbs without bowing were noted in femur and humeral bones. The patient delivered a baby boy, 4115 g, APGAR scores were 5 and 7 at 1 and 5 min. The baby had a dysmorphic face, frontal bossing, low nasal bridge, low-set ears and short neck. The thorax was narrow and abdomen was protuberant. The upper and lower proximal limbs appeared short. A chest X-ray revealed short, curved ribs and opacification of both lungs. He had respiratory distress shortly after birth and had persistent severe respiratory distress despite adequate mechanical ventilation. On the third day, he had cardiac arrest; resuscitation was not done due to family request. The baby was declared deceased due to cardiopulmonary failure related to his congenital anomaly. Conclusions Ultrasonography could readily indicate TD prenatally. The pregnancy can continue up to late third trimester without miscarriage. Most of the neonates die in utero; those who survive are dependent on ventilator.