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Am J Perinatol 1996; 13(8): 495-498
DOI: 10.1055/s-2007-994435
ORIGINAL ARTICLE

© 1996 by Thieme Medical Publishers, Inc.

Prenatal Diagnosis of Asphyxiating Thoracic Dysplasia (Jeune Syndrome)

Chih-Ping Chen, Shuan-Pei Lin, Fen-Fen Liu, Sheau-Wen Jan, Shyr-Yeu Lin, Chung-Chi Lan
  • Departments of Obstetrics and Gynecology, Pediatrics, and Medical Research, Mackay Memorial Hospital, Taiwan, Republic of China
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Publication Date:
04 March 2008 (online)

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ABSTRACT

Asphyxiating thoracic dysplasia (ATD), or Jeune syndrome, is an uncommon auto-somal 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.

Keywords

Asphyxiating thoracic dysplasia - Jeune syndrome - ultrasound - prenatal diagnosis