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Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus
Author(s) -
Christiaens Antoine B.,
Deprez Pierre M. L.,
Amyere Mustapha,
Mendola Antonella,
Bernard Pierre,
Gillerot Yves,
Clapuyt Philippe,
Godfraind Catherine,
Lengelé Benoît G.,
Vikkula Miikka,
NyssenBehets Catherine
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37462
Subject(s) - fetus , agenesis , anatomy , knee joint , medicine , transverse plane , joint (building) , surgery , pregnancy , biology , genetics , architectural engineering , engineering
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.