Abstract Ref Number = APCP1013
TYPE II TANATOPHORIC DYSPLASIA -- A CASE REPORT
Natharina Yolanda,Ferry Yulianto,Sally Arina,Johanes Edwin
Bunda Aliyah Hospital
Background : We reported a neonate with clinical findings consistent with tanatophoric dysplasia. This skeletal disorder is rare and lethal. Only a few had reported this case in Indonesia.
Case Presentation Summary : A 37-year old Asian female, fourth gravida at 39-week, was presented to our hospital for elective Cesarean section due to polyhydramnios, frank breech, and gestational hypertension. She was married to a 42-year old Asian male. There was no history of rashes, fever, alcohol intake, substance drug abuse, smoking habit, or radiation exposure. Her third baby had died due to unknown congenital abnormality. Ultrasound of 34-week gestation found frontal bossing, prominent temporal lobe, clover-skull, and low nasal bridge. Thoracic diameter was smaller than abdominal diameter. Short limb without bowing was noted in femur and humerus bone. Her laboratory investigation of complete blood count, albumin, random blood glucose, and urinalysis were within normal limits. Patient delivered a baby boy, 4,115 grams, APGAR score was 5 and 7 at the first and fifth minute. He had dysmorphic face, frontal bossing, low nasal bridge, low-seat ears, and short neck. The thorax was narrow and abdomen was protuberant. Upper and lower proximal limbs appeared short. Thoracic radiographic 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, patient was apneic; resuscitation was not done due to family request. Patient was declared deceased due to cardiopulmonary failure related to his congenital anomaly.
Learning Points/Discussion : Tanatophoric dysplasia is the most lethal skeletal dysplasia. Ultrasonography could highly indicate this abnormality prenatally. The pregnancy can continue up to late third trimester without miscarriage. Most of the neonates died in utero; those who survive were dependent on ventilator.
Keywords: tanatophoric skeletal dysplasia frontal bossing