Titre
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Trevisani, V.
Auteure/Auteur
Balestri, E.
Auteure/Auteur
Napoli, M.
Auteure/Auteur
Caraffi, S.G.
Auteure/Auteur
Baroni, M.C.
Auteure/Auteur
Peluso, F.
Auteure/Auteur
Colonna, A.
Auteure/Auteur
Iughetti, L.
Auteure/Auteur
Gargano, G.
Auteure/Auteur
Superti-Furga, A.
Auteure/Auteur
Garavelli, L.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
2073-4425
Statut éditorial
Publié
Date de publication
2023-08-31
Volume
14
Numéro
9
Première page
1745
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Systematic Review ; Case Reports ; Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
In 1990, Gorlin et al. described four types of craniofacial duplications: (1) single mouth with duplication of the maxillary arch; (2) supernumerary mouth laterally placed with rudimentary segments; (3) single mouth with replication of the mandibular segments; and (4) true facial duplication, namely diprosopus. We describe a newborn born with wide-spaced eyes, a very broad nose, and two separate mouths. Workup revealed the absence of the corpus callosum and the presence of a brain midline lipoma, wide sutures, and a Chiari I malformation with cerebellar herniation. We conducted a systematic review of the literature and compared all the cases described as diprosopus. In 96% of these, the central nervous system is affected, with anencephaly being the most commonly associated abnormality. Other associated anomalies include cardiac malformations (86%), cleft palate (63%), diaphragmatic hernia (13%), and disorder of sex development (DSD) (13%). Although the facial features are those that first strike the eye, the almost obligate presence of cerebral malformations suggests a disruptive event in the cephalic pole of the forming embryo. No major monogenic contribution has been recognized today for this type of malformation.
PID Serval
serval:BIB_5E77229BB467
PMID
Open Access
Oui
Date de création
2023-10-02T12:51:12.373Z
Date de création dans IRIS
2025-05-20T16:34:21Z
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Nom
37761885_BIB_5E77229BB467.pdf
Version du manuscrit
published
Licence
https://creativecommons.org/licenses/by/4.0
Taille
14.18 MB
Format
Adobe PDF
PID Serval
serval:BIB_5E77229BB467.P001
URN
urn:nbn:ch:serval-BIB_5E77229BB4678
Somme de contrôle
(MD5):b26a6285853e8ff561606c394fe8ea11