Literature DB >> 23791929

Alobar holoprosencephaly with cyclopia - autopsy-based observations from one medical center.

Jarosław Swatek1, Justyna Szumiło, Franciszek Burdan.   

Abstract

Holoprosencephaly, a major congenital malformation of the brain, consists in a complete or partial failure of the prosencephalon to divide into separate hemispheres. Alobar holoprosencephaly with cyclopia was analyzed on the basis of autopsy reports performed for hospitals admitting patients from the Lublin Region in Eastern Poland in the period of 20 years (1981-2000). The malformation was found in seven newborns - five girls, one boy and one child with sex not established due to agenesia of the genital organs, all autopsied in the years 1990-1999. According to clinical data, none of the mothers (age 24-39 years) was exposed to any prescribed or over-the-counter (OTC) drugs during pregnancy, but one was exposed to paints in early pregnancy. The proboscis was present in four of seven cases. Six of seven children displayed additional congenital malformations. In two cases intrapancreatic accessory spleen suggesting trisomy 13 was found. Alobar holoprosencephaly with cyclopia is a rare lethal congenital anomaly frequently accompanied by other malformations and characterized by large variations in incidence.
Copyright © 2013 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Autopsy; Congenital malformation; Cyclopia; Holoprosencephaly

Mesh:

Year:  2013        PMID: 23791929     DOI: 10.1016/j.reprotox.2013.06.060

Source DB:  PubMed          Journal:  Reprod Toxicol        ISSN: 0890-6238            Impact factor:   3.143


  1 in total

1.  Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.

Authors:  Ichrak Drissi; Emily Fletcher; Ranad Shaheen; Michael Nahorski; Amal M Alhashem; Steve Lisgo; Alberto Fernández-Jaén; Katherine Schon; Kalthoum Tlili-Graiess; Sarah F Smithson; Susan Lindsay; Hayley J Sharpe; Fowzan S Alkuraya; Geoff Woods
Journal:  J Med Genet       Date:  2021-04-05       Impact factor: 6.318

  1 in total

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