Prenatal diagnosis of asphyxiating thoracic dysplasia (Jeune syndrome).
Asphyxiating thoracic dysplasia (ATD), or Jeune syndrome, is an uncommon autosomal recessive skeletal disorder characterized by a small thorax, varying degrees of rhizomelic brachymelia, polydactyly, pelvic abnormalities, and renal anomalies. We describe prenatal sonographic examinations in the third trimester of a fetus with abnormal small thorax, short limbs, polyhydramnios, and absence of fetal respiratory movements. At 36 weeks gestation, the fetal biparietal diameter was 93 mm, compatible with 37 weeks; the long-bone lengths measured < 5th percentile; the thoracic circumference (TC) measured 230 mm (< 5th percentile); the abdominal circumference (AC) measured 286 mm (25th percentile), and the TC/AC ratio was 0.80 (lower limit of normal). Our case shows that, although a discrepancy between gestational age and TC is prominent, TC/AC ratio may reach lower limit of normal in cases of fetal ATD, when fetal growth is compromised.
Chen
C P
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taiwan, Republic of China.
Lin
S P
SP
Liu
F F
FF
Jan
S W
SW
Lin
S Y
SY
Lan
C C
CC
D000328:Adult; D001238:Asphyxia Neonatorum; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011247:Pregnancy; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*; D016216:Ultrasonography, Prenatal