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.

Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature / Trevisani, V.; Balestri, E.; Napoli, M.; Caraffi, S. G.; Baroni, M. C.; Peluso, F.; Colonna, A.; Iughetti, L.; Gargano, G.; Superti-Furga, A.; Garavelli, L.. - In: GENES. - ISSN 2073-4425. - 14:9(2023), pp. 1-10. [10.3390/genes14091745]

Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature

Trevisani V.;Balestri E.;Baroni M. C.;Colonna A.;Iughetti L.;Gargano G.;Garavelli L.
2023

Abstract

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.
2023
14
9
1
10
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature / Trevisani, V.; Balestri, E.; Napoli, M.; Caraffi, S. G.; Baroni, M. C.; Peluso, F.; Colonna, A.; Iughetti, L.; Gargano, G.; Superti-Furga, A.; Garavelli, L.. - In: GENES. - ISSN 2073-4425. - 14:9(2023), pp. 1-10. [10.3390/genes14091745]
Trevisani, V.; Balestri, E.; Napoli, M.; Caraffi, S. G.; Baroni, M. C.; Peluso, F.; Colonna, A.; Iughetti, L.; Gargano, G.; Superti-Furga, A.; Garavelli, L.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1339108
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