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Prenatal 2D and 3D ultrasound diagnosis of diprosopus: case report with post-mortem magnetic resonance images (MRI) and review of the literature

Prenatal Diagnosis Unit, Department of Gynecology and Obstetrics, University Federico II of Naples, Naples, Italy.
Prenatal Diagnosis (Impact Factor: 3.27). 10/2009; 29(10):992-4. DOI: 10.1002/pd.2321
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    • "Although craniofacial duplication has been historically considered as a type of conjoined twins (Al Muti Zaitoun et al., 1999; Bates, 2002; Bendersky, 2000; Hahnel et al., 2003; Okazaki et al., 1987), it has also been suggested that it could be due to a duplication of the rostral aspect of the notochord (Hahnel et al., 2003). This defect could lead to the formation of two spinal axis and two neural plates, which finally turns into the duplication of the different derivates from the neural crest (Kotrikova et al., 2007; Maruotti et al., 2009). "
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    ABSTRACT: Craniofacial duplication or diprosopus is a very rare malformation that is present in approximately 0.4% of conjoined twins. Here is presented a case of craniofacial duplication in association with bilateral cleft lip/palate in both heads found in a ceramic representation from the early Chimú culture from Peru. A comparative analysis is made with a current case of a 28-week-old fetus with similar characteristics. After reviewing the medical literature on conjoined twins, very few reports of facial cleft in both twins were found, with no reports at all of bilateral cleft lip/palate. This ceramic crock is considered one of the first representations suggestive of craniofacial duplication, and probably the first reporting it in association with facial cleft.
    Twin Research and Human Genetics 04/2014; 17(3):1-4. DOI:10.1017/thg.2014.20 · 1.92 Impact Factor
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    • "The duplication may involve the face, components of the cranium , or a combination of both. The mildest form of cerebral involvement is duplication of the pituitary gland (Shah et al., 1997; Burke et al., 2000; Shroff et al., 2003; De Penna et al., 2005; Akin et al., 2011), while nasal duplication represents the mildest form of facial involvement (Ghosh et al., 1971; Obwegeser et al., 1978; Barr, 1982; Maruotti et al., 2009). Most cases occur in isolation, although there are four reports among twins (Rai et al., 1998). "
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    ABSTRACT: Diprosopus (Greek; di-, "two" + prosopon, "face"), or craniofacial duplication, is a rare craniofacial anomaly referring to the complete duplication of facial structures. Partial craniofacial duplication describes a broad spectrum of congenital anomalies, including duplications of the oral cavity. This paper describes a 15 month-old female with a duplicated oral cavity, mandible, and maxilla. A Tessier type 7 cleft, midline meningocele, and duplicated hypophysis were also present. The preoperative evaluation, surgical approach, postoperative results, and a review of the literature are presented. The surgical approach was designed to preserve facial nerve innervation to the reconstructed cheek and mouth. The duplicated mandible and maxilla were excised and the remaining left maxilla was bone grafted. Soft tissue repair included closure of the Tessier type VII cleft. Craniofacial duplication remains a rare entity that is more common in females. The pathophysiology remains incompletely characterized, but is postulated to be due to duplication of the notochord, as well as duplication of mandibular growth centres. While diprosopus is a severe deformity often associated with anencephaly, patients with partial duplication typically benefit from surgical treatment. Managing craniofacial duplication requires a detailed preoperative evaluation as well as a comprehensive, staged treatment plan. Long-term follow up is needed appropriately to address ongoing craniofacial deformity.
    Journal of cranio-maxillo-facial surgery: official publication of the European Association for Cranio-Maxillo-Facial Surgery 08/2013; DOI:10.1016/j.jcms.2013.05.016 · 2.60 Impact Factor
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