Holoprosencephaly (HPE) : case report and review of the literature.
Brain
Fetal malformation
Holoprosencephaly
Journal
International journal of surgery case reports
ISSN: 2210-2612
Titre abrégé: Int J Surg Case Rep
Pays: Netherlands
ID NLM: 101529872
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
20
07
2023
accepted:
25
08
2023
medline:
1
9
2023
pubmed:
1
9
2023
entrez:
31
8
2023
Statut:
ppublish
Résumé
Holoprosencephaly (HPE) is a complex brain malformation resulting from a medial cleavage defect of the prosencephalon into right and left hemispheres, occurring during early embryonic development. We report an alobar holoprosencephaly diagnosed on imaging (obstetrical ultrasound) and revealed by a polymalformative syndrome in an 8-month-old infant. Holoprosencephaly affects the forebrain and face, causing neurological manifestations and facial anomalies of varying severity. HPE is a cerebral midline anomaly. Its fetal prognosis is extremely guarded, particularly for the alobar form.
Identifiants
pubmed: 37651805
pii: S2210-2612(23)00852-0
doi: 10.1016/j.ijscr.2023.108723
pmc: PMC10509860
pii:
doi:
Types de publication
Case Reports
Langues
eng
Pagination
108723Informations de copyright
Copyright © 2023. Published by Elsevier Ltd.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare having no conflicts of interest for this article.
Références
Pediatrics. 1964 Aug;34:256-63
pubmed: 14211086
Int J Gynaecol Obstet. 1999 Aug;66(2):165-9
pubmed: 10468341
Am J Hum Genet. 2002 Nov;71(5):1017-32
pubmed: 12395298
Am J Med Genet. 1997 Dec 12;73(2):217-26
pubmed: 9409876
Brain Dev. 1999 Dec;21(8):513-21
pubmed: 10598051
Int J Surg. 2020 Dec;84:226-230
pubmed: 33181358