On the symmetry of limb deficiencies among children with multiple congenital anomalies

Annales de génétique
C StollP Mastroiacovo

Abstract

In humans, unpaired organs are placed in a highly ordered pattern along the left-right axis. As indicated by animal studies, a cascade of signaling molecules establish left-right asymmetry in the developing embryo. Some of the same genes are involved also in limb patterning. To provide a better insight into the connection between these processes in humans, we analysed the symmetry of limb deficiencies among infants with multiple congenital anomalies. The study was based on data collected by the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS). Registries of the ICBDMS provided information on infants who, in addition to a limb deficiency, also had at least one major congenital anomaly in other organ systems. We reviewed 815 such cases of which 149 cases (18.3 %) were syndromic and 666 (81.7 %) were nonsyndromic. The comparisons were made within the associated limb deficiencies, considering the information on symmetry, using a comparison group with malformations associated not involved in the index association. Among the non-syndromic cases, the left-right distribution of limb deficiencies did not differ appreciably between limb deficiency subtypes (e.g., preaxial, transverse, longitudinal). The left-righ...Continue Reading

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Citations

Nov 19, 2013·BMC Musculoskeletal Disorders·Ecaterina VasluianHermien E K de Walle
Nov 23, 2006·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Igor HudićFahrija Skokić
Aug 26, 2006·Birth Defects Research. Part A, Clinical and Molecular Teratology·Mary H OwenLewis B Holmes
Jun 5, 2003·American Journal of Medical Genetics. Part a·Oded ScheuermanPaul Merlob
Dec 1, 2005·Phytochemical Analysis : PCA·Nelson FrighettoAntonio Carlos Siani
Sep 22, 2020·American Journal of Medical Genetics. Part a·Jorieke E H BergmanHermien E K de Walle
May 9, 2006·Cadernos de saúde pública·Martha Lopes Schuch de CastroMaria da Graça Martino-Röth

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