A Rare Patient with Facial Duplication

Kalantar-Hormozi, Abdoljalil MD; Shahrokh, Soraya MD; Mirshmirani, Alireza MD; Davai, Nazanin Rita MD

Journal of Craniofacial Surgery: January 2017 - Volume 28 - Issue 1 - p 11–13
doi: 10.1097/SCS.0000000000003385
Original Articles

Abstract: Facial duplication, in whole or in part, is a very rare malformation. It may be symmetrical or asymmetric. Those cases that have been reported in the literature constitute a spectrum extending from simple nasal duplication to complete separation of 2 faces. Up to now there are some reports of eye, nose, mandible, or maxilla duplication separately. But there is no report of oral orifice or lips duplication. The present article reports a case of a newborn girl who presented with 2 mouths and also duplication of zygoma and maxilla. Then, we describe her stages of treatment from birth through now that she has 20 years.

*15 Khordad Hospital

Modarres Hospital

Mofid Hospital, SBMU, Tehran, Iran.

Address correspondence and reprint requests to Abdoljalil Kalantar-Hormozi, MD, Professor of Plastic Surgery, Department of Plastic and Craniofacial Surgery, Shahid Beheshti Medical University, Number 2, Nikan Building, 5th Floor, Shariati Street, Postal Code 1911094797, Tehran, Iran; E-mail: Kalantarj@yahoo.com, Kalantaroffice@gmail.com

Received 10 September, 2016

Accepted 10 October, 2016

The authors report no conflicts of interest.

Article Outline

The term “duplicate” means another thing of exactly the same kind. In medical textbook, this word is often used for genetic purposes and refers to the occurrence of repeated section of genetic material in chromosome. But also this term has been used for defining the presence of 2 same organs in the human body, such as GI duplication, thumb duplication, etc.1

Among these spectra of rare malformation there is a phrase “median craniofacial duplication or hyperplasia” that includes all forms of tissue excess starting from thickened or duplicated nasal septum toward the more severe forms of frontonasal dysplasia.1,2 Of all congenital facial anomalies, craniofacial clefts are among the most disfiguring. They may be seen in a variety of patterns and varying degrees of severity. Congenital craniofacial clefts are abnormal disfigurements of the face and cranium with deficiencies, excesses, or even a normal (but separated) amount of tissue occurring along linear regions. The basic defect of these malformations is not known, but experiments have shown that a reduction in the number of migrating neural crest cells result in these multiple defects.2,3

There are some forms of midline clefts (number 0-14 clefts, according to Tessier classification) with excess tissue hay may be manifested in the lip with broad philtral columns or a duplication of the labial frenulum.4 The nose may be bifid with a broad columella and mid dorsal furrow. The alar and upper lateral cartilages may be displaced laterally. Also there may be some degree of skeletal duplication and hyperplasia such as nasal spine duplication, maxillary alveolar ridge hyperplasia. The cartilaginous and bone nasal septum may be thickened or duplicated hyperplasia, and etc.4,5

But up to now there is no report of lip or maxillary duplication. In this article, we report a patient with lip and maxillary bone duplication.

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PATIENT PRESENTATION

About 20 years ago (at 1996) a newborn girl referred to our clinic with a mass on her left cheek area. She had born of unrelated parents with no familial history of congenital disorder. Her mother had no history of any sickness or medicine using in her pregnancy period. At visiting the baby, physical examination of the face revealed a marked asymmetry in her malar region with a marked fullness in this area. On closer examination there appeared to be an extra upper and lower lip that had synchronous movements with her month during crying or laughing (Fig. 1).

In her computed tomography scan we found that she had also 2 maxilla and zygoma in her left side of face and also some degree of dysplasia in her cranial vault (Fig. 2).

She had no problem in eating or breathing so we had efficient time to reconstruct this deformity at the best time. So we planned staged operation for her treatment. Surgical steps: at first stage after initial surveys and neurosurgical consultation at about third month of age reformation of calvarial bony vault had been performed. Also at the same time the excess tissue of zygomatic and maxillary bone had been removed (Fig. 3).

In the second operation at age 9 we excised the remnant duplicated lip. Then in the next step, at age 10, we referred the patient to orthodontist for her dental deformity and malocclusion. Subsequently, from that time orthodency began for her up to 15 years of age (Fig. 4).

At that time after completion of orthodency, in the fourth step we performed Bimax surgery for establishment of her occlusion (Fig. 5).

Finally, at the last step, some degree of soft tissue recontouring was performed for the patient.

Now after 2 year from her last operation she had no problem (Fig. 6).

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DISCUSSION

Symmetrical duplication of the face constitutes a spectrum ranging from isolated nasal duplication to complete doubling of all facial elements (diprosopus). The spectrum can be extended to include doubling of the entire head (dicephalus) and even doubling of the body. But the literature on facial duplication is confused by the inclusion of patients of the medial cleft face syndrome and the amniotic band deformation complex.1 The amniotic band deformation complex may produce a secondary schism of the face and is, in such patients, associated with anencephaly, exencephaly, or encephalocele. In this category, despite the distortion of the face, there is no duplication of parts.2,4 In the other end there are median cleft face syndromes or anomalies. Generally, anomaly is a medical term meaning “irregularity” or “different from normal.”1 Craniofacial anomalies are a diverse group of deformities in the growth of the head and facial bones. These abnormalities are congenital (present at birth) and there are numerous variations and syndromes. Some are mild and some are severe and need surgery. There is no single factor that causes these types of abnormalities. Instead, there are many factors that may contribute to their development, including the genetic factors, environmental factors, and the most prominent factor is folate deficiency.6 Selection of the best treatment for our patient depends, but not completely, on which subtype of classification whom may be in. Among these abnormalities, the term “Oculo-auriculo-vertebral spectrum abnormalities” typically involves the cheekbones, jaws, mouth, ears, and eyes. The bones of the spinal column may also be involved. But in these forms almost always we have some degree of bone and soft tissue deficiency rather than hyperplasia or duplication.7 So our patient cannot be in this group. Also, there are some forms of midline number 0–14 cleft (according to Tessier classification) with excess tissue that may be manifested in the lip with broad philtral columns or a duplication of the labial frenulum. The nose may be bifid with a broad columella and mid dorsal furrow. The alar and upper lateral cartilages may be displaced laterally. Also there may be some degree of skeletal duplication and hyperplasia such as nasal spine duplication, maxillary alveolar ridge hyperplasia. The cartilaginous and bone nasal septum may be thickened or duplicated hyperplasia, and etc.8,9 According to lip duplication our patient may be a rare member of this group. But, what about facial duplication? Complete facial duplication (diprosopus) has been reported a number of times.9 A lesser degree of facial duplication is represented by those instances where the median eye represents a fusion of the 2 sides but there is otherwise complete duplication of the nose and the upper and lower jaws; the majority of these patients also were in anencephalic fetuses. We can divide these anomalies into some subdivisions.8,9 The first subgroup is eye duplication. Usually, patients of eye duplication are accompanied by duplication of the nose. This may be due to the presence of duplication of major portion of prosencephalon that is associated with eye duplication. The second subtype can be nasal duplicated patients. Conversely, nasal duplication may be isolated and with normal eyes. Instead, it may be accompanied with maxillary duplication. Isolated nasal duplication (without eye duplication) could arise from bilateral replication of the olfactory placodes. In such patients, the medially placed nares and nasal chambers are smaller than the more normally formed lateral ones, and the upper lips of these patients appear to be normal by description and photographs.9 The another subgroup of facial duplication concerns those patients with duplication of the maxilla, with or without mandibular duplication, but without nasal or optic duplication. Patients such as mine of maxillary duplication without mandibular duplication suggest that maxillary and mandibular arches arise from separate growth centers, and that maxillary and mandibular duplication could result from duplication of the growth centers around the margin of the stomatodeal plate. If we accept this theory, that means that separation of the stomatodeal plate into halves could give rise to duplication of both maxilla and mandible but would be expected to result also in 2 oral openings. However, the most patients of maxillary duplication have only 1 mouth opening. And our patients may be the first one who has 2 mouths. Lip or zygomaticomaxillary duplication is a very rare phenomena, especially when the 2 occurred synchronously. First, Batra et al reported a patient of Proteus syndrome with a fullness at the left cheek that resembled a lower lip but without any motion. He had some degree of left hemi mandibular hyperplasia too, but he had another criterion of this syndrome such as multiple skin and skeletal malformation.10 In our patient we had no other anomaly in the other organs, so this patient may be a new form of facial anomaly that is completely different from another types. But there is a fine gist here that may be noticeable. That is, in Batra case there is lower lip and mandibular dysplasia, and in our case, there is upper lip and maxillary dysplasia. This point may be completely accidental but it needs more investigation. There is no another report of lip duplication, but there is some report of another rare form of facial anomalies. For example, Mason in 1976 reported a case with 2 eyes, 2 noses, and 2 maxilla and mandible.10 Regardless of the group that our patient can be within, staged operation is the best treatment for all these anomalies.11,12 Surgical techniques used for correction of craniofacial clefts depend upon the anatomic regions that are involved. For timing and general corrective protocols, the deformities may be grouped into: midline and paramedian clefts (numbers 0 –14, numbers 1–13, 2–12, or other combinations); oro-naso-ocular clefts (numbers 3–11, 4–10, 5–9); and lateral clefts including constellation of numbers 6, 7, and 8 clefts like Treacher– Collins syndrome of craniofacial microsomia.11,12 So our plan for the treatment of our patient includes: first, emergent repair such as nutrition or breath disorders, then soft tissue reforming such as lip repair, then occlusion reforming with nonsurgical treatments, and at the last stage orthognathic surgery after adolescence.

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Acknowledgment

We appreciate the work of Mr Alireza Chitsazan who kindly assisted us in preparing photographs of the patient.

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REFERENCES

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Keywords:

Craniofacial anomaly; facial duplication; facial malformation; lip duplication

© 2017 by Mutaz B. Habal, MD.