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Prenatal sonographic diagnosis of Ellis–van Creveld syndrome
Author(s) -
Tongsong Theera,
Chanprapaph Pharuhus
Publication year - 2000
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/(sici)1097-0096(200001)28:1<38::aid-jcu6>3.0.co;2-z
Subject(s) - medicine , prenatal diagnosis , thorax (insect anatomy) , polydactyly , dysplasia , fetus , anatomy , obstetrics , pregnancy , pathology , genetics , biology
Ellis–van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and heart defects. A woman underwent sonographic examination at 27 weeks' menstrual age to rule out anomalies because of premature labor. Sonography revealed a live fetus with short long bones, polydactyly in the hands and feet, a narrow thorax with short ribs, and an atrial septal defect. All bony structures were of normal hyperechogenicity. The placenta appeared normal and was located at the posterior uterine wall; the amniotic fluid volume was also normal. These findings led to the diagnosis of short‐rib dysplasia, most likely Ellis–van Creveld syndrome. The preterm labor stopped but spontaneously recurred at 35 weeks, when a 2,320‐g female infant was vaginally delivered. The infant died of pulmonary insufficiency shortly after birth. Postmortem examination confirmed the prenatal findings. We conclude that Ellis–van Creveld syndrome can be readily diagnosed by prenatal sonography in the third trimester. © 2000 John Wiley & Sons, Inc. J Clin Ultrasound 28:38–41, 2000.