Diprosopus a rare craniofacial malformation

Bhuyan, Mrinal; Haque, Inamul

doi:10.4103/ajns.ajns_202_17

Cited by 7 publications

(6 citation statements)

References 6 publications

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“…Diprosopus should be considered in differential diagnosis with other conditions affecting facial bones and midface abnormalities, in particular, supernumerary nostrils, medial cleft face syndrome, amniotic band syndrome, and lateral facial cleft. Supernumerary nostrils are not considered a duplication of the nose, as they are located above rather than between normal nostrils, do not form septa, and appear to be secondary to nasal pits [ 1 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 ]. Median cleft face syndrome consists of separation of the face in the midline without duplication of parts; it is thought to be secondary to a failure of neural crest cell migration over the frontonasal process.…”

Section: Discussionmentioning

confidence: 99%

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

Trevisani,

Balestri,

Napoli

et al. 2023

Genes

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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.

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Section: Discussionmentioning

confidence: 99%

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

Trevisani,

Balestri,

Napoli

et al. 2023

Genes

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“…2 Advanced maternal age, polyhydramnios, and consanguineous marriage are considered highrisk factors for diprosopus. 3 In milder cases, one may observe duplication of the eyes, nose, or mouth, while more extensive forms involve duplicated brain structures, skulls, and even orofacial tissues. A complete duplication, or dicephalus, is associated with a high incidence of anomalies in the Central Nervous System (CNS), Cardiovascular System (CVS), Gastrointestinal System (GI), and Respiratory Systems (RS), as well as cleft lip and palate.…”

Section: Discussionmentioning

confidence: 99%

“…Usually, diprosopus patients are stillborn; if not, the prognosis is poor. 3 Craniofacial duplication cases remain scarce, and, as such, comprehensive literature on the subject is limited. There are only about 35 reported cases in the literature.…”

Section: Discussionmentioning

confidence: 99%

First case report of partial craniofacial duplication in a Lebanese patient and its functional implications

Harb,

Kiwan,

Hanna

et al. 2023

JPNC

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Craniofacial duplication, a rare congenital anomaly, presents an intricate spectrum of clinical manifestations that can profoundly impact an individual's quality of life. This case report explores the unique presentation of partial craniofacial duplication in a Lebanese patient and sheds light on the associated functional implications. Our patient presented at day of life zero with atypical craniofacial features, including duplication of nasal structures, oral structures including the tongue and the hard palate, and fontanels. Comprehensive clinical and radiological assessments were conducted to ascertain the extent of the craniofacial involvement. The diagnostic workup revealed partial duplication. The baby is still alive with no signs of respiratory distress. The functional implications extend beyond the physical presentation, highlighting the importance of a multidisciplinary healthcare approach to address the complex needs of individuals with craniofacial anomalies. This case contributes to the limited literature on craniofacial duplications and underscores the need for continued research and specialized care in managing such rare and intricate congenital conditions.

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“…1f ). A total of 81 scientific reports on human facial duplications have been documented since 1642, 38 early ones cited by Barr [6], 33 more recent ones cited by Bidondo et al, [1] and 10 additional cases [7][8][9][10][11][12][13][14][15][16]. The prevalence rate of Diprosopus has been calculated to be 2 per 1,000,000 births in Argentinia, accounting for 10% of all conjoined twins [1].…”

Section: Introductionmentioning

confidence: 99%

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

Rehder

Kircher

Schoner

et al. 2023

Orphanet J Rare Dis

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Background Diprosopus is a rare malformation of still unclear aetiology. It describes a laterally double faced monocephalic and single-trunk individual and has to be distinguished from the variant Janus type diprosopus. Results We examined seven double-faced foetuses, five showing true diprosopus, and one each presenting as monocephalic Janiceps and parasitic conjoined twins. Four of the foetuses presented with (cranio)rachischisis, and two had secondary hydrocephaly. Three foetuses showed cerebral duplication with concordant holoprosencephaly, Dandy-Walker cyst and/or intracranial anterior encephalocele. In the Janiceps twins, cerebral duplication was accompanied by cerebral di-symmetry. In the parasitic twins the cyclopic facial aspects were suggestive of concordant holoprosencephaly. In one of the true diprosopus cases, pregnancy was achieved after intracytoplasmic sperm injection. Whole-exome sequencing, perfomed in one case, did not reveal any possible causative variants.The comparison of our double-faced foetuses to corresponding artistic representations from the Tlatilco culture allowed retrospective assignment of hairstyles to brain malformations. Conclusion Brain malformations in patients with diprosopus may not be regarded as an independent event but rather as a sequel closely related to the duplication of the notochord and neural plate and as a consequence of the cerebral and associated craniospinal structural instabilities.

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Diprosopus a rare craniofacial malformation

Cited by 7 publications

References 6 publications

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

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

First case report of partial craniofacial duplication in a Lebanese patient and its functional implications

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

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