Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus. Issue 2 (6th November 2015)

• Record Type: Journal Article
• Authors: Christiaens, Antoine B.; Deprez, Pierre M. L.; Amyere, Mustapha; Mendola, Antonella; Bernard, Pierre; Gillerot, Yves; Clapuyt, Philippe; Godfraind, Catherine; Lengelé, Benoît G.; Vikkula, Miikka; Nyssen‐Behets, Catherine
• Is Part Of: American journal of medical genetics. Volume 170:Issue 2(2016)
• Page Start: 523
• Page End: 530
• Publication Date: 2015-11-06
• Subjects: congenital abnormalities -- lower limb deformities -- absence anomaly of limbs -- genetics -- transverse limb anomaly; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37462
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Congenital limb anomalies occur in Europe with a prevalence of 3.81/1, 000 births and can have a major impact on patients and their families. The present study concerned a female fetus aborted at 23 weeks of gestation because she was affected by non‐syndromic bilateral absence of the zeugopod (leg) and autopod (foot). Autopsy of the aborted fetus, X‐ray imaging, MRI, and histochemical analysis showed that the distal extremity of both femurs was continued by a cartilage‐like mass, without joint cavitation. Karyotype was normal. Moreover, no damaging variant was detected by exome sequencing. The limb characteristics of the fetus, which to our knowledge have not yet been reported in humans, suggest a developmental arrest similar to anomalies described in chicks following surgical experiments on the apical ectodermal ridge of the lower limbs. © 2015 Wiley Periodicals, Inc.