Diprosopus Research Articles

Partial facial duplication (diprosopus): a case report and review of the literature

BackgroundDiprosopus, or craniofacial duplication, is a rare entity that occurs in approximately 1 in 180,000 to 15 million live births. The degree of duplication varies from complete facial duplication to small facial structure duplication like the nose and eye. The cause of diprosopus is unknown though there are proposed factors.Case presentationOur African patient was a term 72 hours old female neonate who was referred to our center with impression of lower facial duplication with two oral cavity that are located side to side separated by large soft tissue, she also had flat nasal bridge with widely separated nostrils and widely spaced eyes. Besides the facial malformation she had multiple episodes of vomiting with aspiration. Her blood tests were normal. Precontract brain computed tomography (CT) scan confirmed partially duplicated mandible and maxilla, two oral cavity separated by large fatty tissue, brain tissue were well formed and the only abnormality was corpus callosum agenesis and interhemispheric lipoma. In her stay at hospital nasogastric tube (NG) tube feed was initiated and started with antibiotics for aspiration pneumonia. After 25th day the neonatal passed away with possible cause of death being respiratory failure.ConclusionCraniofacial duplication is a very rare anomaly with only a few cases reported. Most of these patients are stillborn, even if they survive the prognosis is often poor. Early prenatal diagnosis is very important as termination of pregnancy can sometimes be considered an option.

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

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.

Diprosopus Tetrophthalmus Including Radiological and Post-Partum Images- A Case Report

Introduction: Conjoint twinning is very uncommon with an incidence of approximately 1:50,000 to 1:100,000. Diprosopus tetrophthalmus is the rarest variant of conjoined twinning which results from incomplete monozygotic, monochorionic and monoamniotic twin division associated with multiple congenital malformations. A 25 years old female patient at 26 weeks of gestation having single gravida (primi) and no significant family history was referred to our radiology department for anomalies scan. Transabdominal obstetric ultrasound showed the fetus with one head, two faces, two legs, two hands, one thorax, one abdomen and a single spinal cord with deformed spine. The aim of this case report was to present and discuss a case of Diprosopus tetrophthalmus (craniofacial duplication) a rare variant of conjoined twins resulted from incomplete monozygotic, monochorionic and monoamniotic twin division which help in prenatal counseling to the patient and its management.

MAXILLOFACIAL DIPROSOPUS: AN EXTREMELY RARE CONGENITAL ANOMALY AND ITS SURGICAL MANAGEMENT

Diprosopus characterizes congenital craniofacial duplication, an exclusive maxillofacial involvement that has only been documented twice. A seven-month-old girl attended the surgical outpatient clinic due to a congenital mandibular alteration and cervical tumor mass. Extraoral physical examination revealed a 3cm right sessile appendiceal nodule with a central ostium, which secreted a hyaline fluid in the mandibular cutaneous region and was mobile during breastfeeding. Moreover, an ipsilateral level II asymptomatic cervical enlargement was observed. A computed tomography showed the duplication of the condyle, ramus, and mandibular body on the right side, which had a mandibular canal and teeth germs emerging toward the skin nodule, as well as a 4.1cm submandibular/cervical well-defined cystic hypodense image. Clinicoradiographic aspects were conclusive for mandibular and mouth duplication. Surgical excision of the accessory mandible, cutaneous nodule/accessory mouth, and cervical cyst were performed and sent for pathological examination. The patient is undergoing strict follow-up, without post-surgical complications. Diprosopus characterizes congenital craniofacial duplication, an exclusive maxillofacial involvement that has only been documented twice. A seven-month-old girl attended the surgical outpatient clinic due to a congenital mandibular alteration and cervical tumor mass. Extraoral physical examination revealed a 3cm right sessile appendiceal nodule with a central ostium, which secreted a hyaline fluid in the mandibular cutaneous region and was mobile during breastfeeding. Moreover, an ipsilateral level II asymptomatic cervical enlargement was observed. A computed tomography showed the duplication of the condyle, ramus, and mandibular body on the right side, which had a mandibular canal and teeth germs emerging toward the skin nodule, as well as a 4.1cm submandibular/cervical well-defined cystic hypodense image. Clinicoradiographic aspects were conclusive for mandibular and mouth duplication. Surgical excision of the accessory mandible, cutaneous nodule/accessory mouth, and cervical cyst were performed and sent for pathological examination. The patient is undergoing strict follow-up, without post-surgical complications.

PLAST Classification of Mandibular Duplication and Associated Anomalies

Mandibular duplication is a rare subtype of craniofacial duplication. It is often associated with other anomalies including cleft palate, lingual duplication, and macrostomia. We present an 8-year-old female who had mandibular duplication presenting soon after birth with tongue-based airway obstruction. She was found to have cardiac abnormalities, split sternum, accessory tongue, cleft palate, and accessory submandibular gland. She underwent surgical correction including resection of the duplicated mandible, tongue, and submandibular gland as well as tongue lip adhesion at 12 days old. Post operatively, we were able to avoid tracheostomy and she was able to undergo successful correction of her cardiac anomaly. Literature review found 29 patients with mandibular duplication. Patients with w-shaped (type I) mandibular duplication are more likely to have airway compromise requiring intervention. Several associated anomalies were seen in patients with mandibular duplication. After analysis, we propose the PLAST classification to describe common findings: cleft Palate, Lip duplication, Airway obstruction, Salivary gland abnormalities, and Tongue duplication. Extra craniofacial anomalies such as cardiac and spinal anomalies were also noted in several patients.

Incomplete diprosopia with ventral cerebellum inversion in one bovine calf

The objective of this case report is to relate a malformation in a newborn male girolando breed bovine calf. The bovine presented craniofacial duplication and was sent to the Animal Diagnosis Center (CDA) at the Federal University of Rondônia (UNIR). The descriptive study of the main anatomical changes observed during the desiccation of the facial muscles and removal of the brain was performed. The anatomical parts were exposed on a board for photo documentation and description of the malformations. The diagnosis of incomplete diprosopia was made by observing the congenital lesions on the face and brain characterized through the craniofacial junction without total head separation; the animal presented triophthalmia, duplication of nasal and oral structures with lateral deviance of the right jaw side. The animal’s cerebellum was found in the opposite position and was united with the two brains through the cerebral peduncles in a caudal cranial orientation. In this case report, it was not possible to determine the malformation etiology, however, it emphasizes the importance of diprosopia in bovine and it suggests the need of further studies about the mechanism that produce cranial alterations.

A Rare Case of Partial Maxillary and Upper Lip Duplication Associated with 1q21 Microduplication and Intrauterine Roaccutane Exposure

Craniofacial duplication - also known as diprosopus - is an exceptionally rare phenomenon. The handful of published cases in the literature discuss presentations of isolated craniofacial duplications in addition to those associated with syndromes such as type IV orofacial digital syndrome and Klippel-Feil syndrome.

Diprosopus: a review of the aetiology and case report of early surgery in a 7-week-old infant with partial facial duplication

Diprosopus is a rare craniofacial anomaly and is considered a subgroup of conjoined twinning. It encompasses a broad spectrum of duplications from single structure doubling to two completely formed heads on one neck. The aetiology of diprosopus remains a controversial topic, and many hypotheses exist. A multifactorial causal relationship is feasible because of the coexistence of other internal system anomalies of cardiac, gastrointestinal, neurological and respiratory origin. Ovid and PubMed databases were searched, using the key words: “diprosopus”, “craniofacial duplication” and “duplicated mandible”. The identified literature and key referenced articles therein were examined. The purpose was to consolidate the existing body of knowledge on the aetiology and management of diprosopus in order to improve our understanding of this rare condition. Our case report is relatively unique in that it represents a complete duplication of the mandible. Other tissues that were duplicated include the tongue, floor of mouth and the lower lip. It was hypothesised that associated growth abnormalities of the facial skeleton could undergo spontaneous correction if the duplicated mandible and associated tissues were excised early. On review, surgery is the only treatment that can offer functional, aesthetic and psychological improvement. Most patients who were offered surgery (in the reviewed literature) had a partial facial duplication. Surgery is usually deferred until the patient is older when more soft tissue is available to perform the reconstruction and when there would possibly be less growth restriction due to growth centre manipulation. This finding on the timing of surgery was in direct conflict with our hypothesis. Level of Evidence: Level V, therapeutic study.

A “three-eyed” infant: A case of partial facial duplication (diprosopus monocephalus triophthalmos)

Craniofacial duplication known as diprosopus is a rare congenital disorder whereby parts or all of the face are duplicated on the head. This is a case of a 1-year-old boy referred to our hospital with an extra eye (third eye) on the left side of the head and an abnormally shaped head, which were noticed since birth. Pregnancy and delivery were uneventful. Apart from routine antenatal medication, there was no history suggestive of ingestion of traditional or other medication during pregnancy. No history of smoking during pregnancy and no history of exposure to radiation. The child was born in a rural area to a “nonconsanguineous marriage.” Examination revealed posterior plagiocephaly, a depressed anterior fontanelle, and a bulging posterior fontanelle. There was an extra eye (third eye) in the left temporal region. Radiologic findings showed the presence of two normally situated bony orbits and two extra orbits in the left temporal region. Well-formed globes were seen in the normal orbits while only one of the extra orbits contained a globe. The importance of prenatal diagnosis is emphasized.

The first record of diprosopus tetrophthalmus in the South Atlantic Ocean: The case of Prionace glauca (Elasmobranchii: Carcharhiniformes: Carcharhinidae) in Brazil

The majority of morphological abnormalities reported for elasmobranchs are cases of bicephalia. This contribution describes the third confirmed case worldwide and the first in the South Atlantic of diprosopus tetrophthalmus (craniofacial duplication) in a foetus of blue shark, Prionace glauca (Linnaeus, 1758), from a female caught off the Brazilian coast (26°36′11′′S, 45°56′00′′W) in July 2007. The specimen is described and compared to normal specimens from the same size and to another one with similar deformities from Chile. The embryo is smaller than a normal embryo, with deformities in the skull, head muscles and curvature of the vertebral column.

Duplication faciale partielle (un diprosope rare) : à propos d’un cas et revue de littérature

Diprosopus, or partial facial duplication, is a very rare congenital abnormality. It is a rare form of conjoined twins. Partial facial duplication may be symmetric or not and may involve the nose, the maxilla, the mandible, the palate, the tongue and the mouth. A male newborn springing from inbred parents was admitted at his first day of life for facial deformity. He presented with hypertelorism, 2 eyes, a tendency to nose duplication (flatted large nose, 2 columellae, 2 lateral nostrils separated in the midline by a third deformed hole), two mouths and a duplicated maxilla. Laboratory tests were normal. The cranio-facial CT confirmed the maxillary duplication. This type of cranio-facial duplication is a rare entity with about 35 reported cases in the literature. Our patient was similar to a rare case of living diprosopus reported by Stiehm in 1972. Diprosopus is often associated with abnormalities of the gastrointestinal tract, the central nervous system, the cardiovascular and respiratory systems and with a high incidence of cleft lip and palate. Surgical treatment consists in the resection of the duplicated components.

Accessory oral cavity associated with duplication of the tongue and the mandible in a newborn: A rare case of Diprosopus. Multi-row detector computed tomography diagnostic role

Craniofacial duplication is a very rare malformation. The phenotype comprises a wide spectrum, ranging from partial duplication of few facial structures to complete dicephalus. We report the case of a newborn with an accessory oral cavity associated to duplication of the tongue and the mandible diagnosed by multi-row detector Computed Tomography, few days after her birth. Our case of partial craniofacial duplication can be considered as Type II of Gorlin classification or as an intermediate form between Type I and Type II of Sun classification.Our experience demonstrates that CT scan, using appropriate reconstruction algorithms, permits a detailed evaluation of the different structures in an anatomical region. Multi-row CT scan is also the more accurate diagnostic procedure for the pre-surgical evaluation of craniofacial malformations.

A Duplication of the Mouth Associated With a Dysontogenic Cyst

IMPORTANCE Diprosopus is a medical condition that refers to full or partial craniofacial duplication. A particular subset of this condition, duplication of the mouth, is an exceedingly rare condition, with 7 reported cases in the medical literature. The embryogenesis and mechanism of disease are not well understood. The objective of this report was to describe a case of partial facial duplication with a discussion of the previous literature, leading to a proposed theory of embryogenesis for this rare anomaly. OBSERVATIONS We present a rare case of duplication of the mouth associated with an intraoral dysontogenic cyst, which presented with upper airway obstruction. The diagnostic and management strategies are discussed, as well as the histopathological features and theories of embryogenesis. CONCLUSIONS AND RELEVANCE On the basis of our findings, we propose the mechanism of origin for duplication of the mouth to be duplication of the first branchial arch. This case offers a deeper understanding of the mechanism of this disease than previously reported. Additional basic science and clinical research is needed to corroborate this theory.

Craniofacial Duplication (Diprosopus) in a Domes- tic Lamb (Ovis aries). - Case report-

A case of craniofacial duplication is described in a West African Dwarf lamb. The major gross anatomical malformations were only observed in the head. Physical examination revealed two heads which were joined laterally at the region of the angle of the mandible, resulting in the name diprosopus (dicephalus monopygus dibrachius). This is probably the first documented report of this particular type of congenital duplication in Nigeria.

Diprosopus dirrhinus: A rare case report

Diprosopus or craniofacial duplication is an extremely rare craniofacial anomaly. It is the rarest form of conjoined twins. One of the types of incomplete facial duplication is the duplication of nose known as diprosopus dirrhinus, of which there is only a single case report from India to date. In the present article, the authors describe a 5-year-old boy having diprosopus dirrhinus with severe hypertelorism, right cleft 12 and right upper eyelid coloboma, a combination of anomalies which have not been reported to date.

Partial craniofacial duplication: A review of the literature and case report

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.

Partial Midfacial Duplication

A case of craniofacial duplication is presented. Details on this rare form are described, and its treatment is discussed with brief review of the pertinent literature. We excised the duplicate maxilla and also discovered bilateral macrostomia. A year later, a mass appeared again. By CT scan, we found that there was a mass in the skull base extruding to the superior wall of cavitas pharyngis. The mass below the sphenoid bone and the ethmoid bone connected with the skull base. CT scan also showed malformation of the first cervical vertebra and odontoid process had bifurcated. Once again, we excised the mass and found a cranial meningocele on the skull base, repaired the palate cleft, and closed the cerebral meningocele. The patient had a palate fistula after operation. A year later, the palate fistula and macrostomia were repaired. We think the patient should be operated on immediately after she was born so that we could relieve the dyspnea; furthermore, by one well-planned operation, we could repair the palate cleft and other deformity just after we excised the mass.

Craniofacial Duplication: A Case Report

A craniofacial duplication or diprosopus is an unusual variant of conjoined twinning. The reported incidence is one in 180,000-15 million births and 35 cases have been reported till date. The phenotype is wide, with the partial duplication of a few facial structures to complete dicephalus. A complete duplication is associated with a high incidence of anomalies in the central nervous system, cardiovascular system, gastrointestinal system and the respiratory system, whereas no major anomalies are found in the infants with a partial duplication. A term baby with the features of a craniofacial duplication has been described, with the proposed theories on embryogenesis and a brief review of the literature.

Diprosopus tetraophthalmus: CT as a complement to autopsy

Diprosopus is the rarest form of conjoined twinning. This anomaly is characterised by craniofacial duplication to varying degrees and is associated with anomalies of the central nervous, cardiac, respiratory and musculoskeletal systems. We present an infant characterised as diprosopus tetraophthalmus who underwent post-mortem CT, which served as a highly useful complement to autopsy.

DIPROSOPUS CONJOINED TWINS: Radiologic, Autoptic, and Histologic Study of a Case

Conjoined twins are a rare and intriguing nature's phenomena; diprosopus or craniofacial duplication is the rarest with a reported incidence of 1 case in 180,000—15 million births. We present a radiologic, autoptic, and histologic study of a 37-week-old male diprosopus twin in a dichorionic pregnancy of a 26-old-year woman. Diprosopus malformation is part of duplication involving face and cranium like janiceps and dicephalus. Our case also shows partial duplication of the stomach with ectopic pancreas. Most studies are required to understand the exact mechanism of this malformation.