title: Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.
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.
authors.affiliation: Pôle de Morphologie, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Brussels, Belgium.|Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Antoine B
authors.initials: AB
authors.lastname: Christiaens
authors.affiliation: Ecole de Kinésiologie et Récréologie, Faculté des Sciences de la Santé et Services Communautaires, Université de Moncton, Moncton, New Brunswick, Canada.|Atlantic Cancer Research Institute, Moncton, New Brunswick, Canada.
authors.forename: Pierre M L
authors.initials: PML
authors.lastname: Deprez
authors.affiliation: Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Mustapha
authors.initials: M
authors.lastname: Amyere
authors.affiliation: Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Antonella
authors.initials: A
authors.lastname: Mendola
authors.affiliation: Department of Obstetrics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Pierre
authors.initials: P
authors.lastname: Bernard
authors.affiliation: Centre for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Yves
authors.initials: Y
authors.lastname: Gillerot
authors.affiliation: Department of Radiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Philippe
authors.initials: P
authors.lastname: Clapuyt
authors.affiliation: Laboratory of Pathology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Catherine
authors.initials: C
authors.lastname: Godfraind
authors.affiliation: Pôle de Morphologie, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Benoît G
authors.initials: BG
authors.lastname: Lengelé
authors.affiliation: Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Miikka
authors.initials: M
authors.lastname: Vikkula
authors.affiliation: Pôle de Morphologie, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Catherine
authors.initials: C
authors.lastname: Nyssen-Behets
mesh_terms: D000328:Adult; D005260:Female; D005333:Fetus / Q000002:abnormalities* / Q000473:pathology*; D006801:Humans; D007719:Knee Joint / Q000002:abnormalities* / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000473:pathology*; D035002:Lower Extremity / Q000254:growth & development / Q000473:pathology*; D008297:Male; D011379:Prognosis
keywords: absence anomaly of limbs; congenital abnormalities; genetics; lower limb deformities; transverse limb anomaly