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 Table of Contents  
CASE REPORT
Year : 2018  |  Volume : 5  |  Issue : 1  |  Page : 45-47

A rare case of median cleft of lower lip in Goldenhar syndrome


1 Reconstructive Sciences Department, Hospital Universiti Sains , Health Campus, Universiti Sains , Kota Bharu, Malaysia
2 Department of Plastic and Reconstructive Surgery, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia

Date of Web Publication8-Feb-2018

Correspondence Address:
Dr. Khai Luen Koh
Department of Plastic and Reconstructive Surgery, Hospital Kuala Lumpur, Jalan Pahang, Kuala Lumpur 50586
Malaysia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jclpca.jclpca_108_17

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  Abstract 


Median cleft on the lower lip (Tessier 30 cleft) is extremely rare with <100 cases reported in literature. Association with other craniofacial anomalies is known to occur, but some combination is extremely rare. We report a unique case of Tessier 30 cleft in a child with constellations of craniofacial cleft associated with Goldenhar syndrome. Rare facial clefts combinations reinforce the embryological basis that they are likely to result from disruption in migration of neural crest cells from rhombomeres to branchial arches rather than other simplistic theories. Case presented is distinct which will contribute to the current literature on rare craniofacial clefts syndrome.

Keywords: Goldenhar syndrome, midline cleft lower lip, Tessier 30 cleft


How to cite this article:
Koh KL, Latib M A. A rare case of median cleft of lower lip in Goldenhar syndrome. J Cleft Lip Palate Craniofac Anomal 2018;5:45-7

How to cite this URL:
Koh KL, Latib M A. A rare case of median cleft of lower lip in Goldenhar syndrome. J Cleft Lip Palate Craniofac Anomal [serial online] 2018 [cited 2019 May 24];5:45-7. Available from: http://www.jclpca.org/text.asp?2018/5/1/45/224898




  Introduction Top


Craniofacial clefts are rare with the incidence has been estimated at 1.4–4.9/10,000 live births.[1] Median clefts of the lower lip and mandible are even rarer with fewer than 100 cases reported.[2],[3] It was first described by Couronne in 1819. Association of median cleft lip with other craniofacial malformations was sparse. Braithwaite in 1954 reported a case of hemifacial microsomia associated with midline lower lip cleft,[4] and recently, Tana reported a case of Goldenhar syndrome in association with paramedian mandibular cleft.[5]

We report an unusual case of a baby boy with median cleft of the lower lip in combination with unilateral cleft of upper lip, cleft palate, and Tessier 7 cleft which constitute a part of Goldenhar syndrome. These constellations of craniofacial anomalies are uncommon in which it will contribute to the current literature on rare craniofacial clefts syndrome.


  Case Report Top


A 11-month-old baby boy was referred to the plastic and reconstructive team with an unusual combination of craniofacial clefts with clinical features of Goldenhar syndrome. He was the only child in the family. Both his parents were fit, healthy, and unrelated. The pregnancy was uneventful, and there was no known exposure to drugs, chemicals, or radiation.

The baby was born at term at 39 weeks gestation and cared for on the special care baby unit. Physical examination was notable for a median cleft of the lower lip, left complete cleft upper lip, alveolus and wide cleft palate, right macrostomia in line with Tessier 7 cleft, right eye epibulbar dermoid, bilateral preauricular appendages, and a pit at left nasojugal fold [Figure 1] and [Figure 2]. There were no features of amniotic band syndrome as a cause for this cleft.
Figure 1: Intraoperative photograph of child underwent cleft left upper lip repair and excision of bilateral auricular appendages at 11 months old. There was also presence of incomplete median cleft of lower lip

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Figure 2: Postoperative 4 months after cleft upper lip repair and excision of bilateral auricular appendages. Upper lip scar was inconspicuous with good nasal symmetry. There was presence of the right eye epibulbar dermoid, coloboma of the left eye, right transverse oral cleft, hemifacial microsomia (right side predominant) with chin deviated to the right, median cleft of the lower lip and left nasolabial pit

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Radiologically, a computed tomography scan with three-dimensional reconstruction showed all sutures were present. The brain parenchyma was normal. There was presence of cleft alveolus and cleft palate. The bony architecture was suggestive of hemifacial microsomia with the absence of ramus and lateral half of the body of the right mandible and absence of the right lateral pterygoid plate [Figure 3].
Figure 3: Preoperative computed tomography of the face with three-dimensional reconstruction showed the presence of complete cleft left upper alveolus, cleft palate, and hypoplastic right mandible

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We have repaired the cleft upper lip with modified Millard's rotation advancement technique, and both preauricular skin appendages were excised at 12 months old. Cleft palate was repaired with Bardach's 2-flap technique at the age of 15 months old. We are planning to repair the midline cleft of the lower lip with “V” excision and straight line closure in due time while macrostomia repair at a later stage. We plan to observe his mandibular anomaly as he grows.


  Discussion Top


Cleft lip and palate are common malformations that usually occur in the isolation of maybe accompanied by other anomalies as part of a syndrome. Median cleft on the lower lip (Tessier 30 cleft) is extremely rare with <100 cases reported in literature. Majority of the median cleft of the lower lip cases reported occurs in isolation, while the remainder having various association including cleft of tongue, ankylossia, oligodontia, heart anomalies, and malformation of sternum and extremities.[3] Association with upper cleft lip and palate was only reported once by Adetayo and Martin in 2013.[6] He described a nonsyndromic child with Tessier 30 cleft in combination with bilateral cleft lip and palate.

Goldenhar syndrome is the expanded spectrum of hemifacial microsomia often called oculo-auricular- vetebral syndrome.[7] It was first described by Maurice Goldenhar in 1952. Since then, numerous anomalies have been added to the spectrum of Goldenhar syndrome by various authors. Common craniofacial association that have been identified include auricular tags, epibulbar dermoid, and facial clefts including transverse oral cleft (Tessier 7), cleft lip and palate, and rare oblique facial clefts.[8] Rare combination of craniofacial cleft with Goldenhar syndrome was only reported by Deraje and Ahuja in 2016[9] in a patient with Tessier 2 cleft, and Tana presented a case of Tessier 2/12 cleft with lower paramedian cleft Tessier.[5] In our case report, the combination of unilateral cleft lip, palate, Tessier 7 cleft and median cleft of lower lip with underlying Goldenhar syndrome signify a rare unique combination which has been rarely reported in the current literature.

Several hypotheses concerning the pathogenesis of median clefts of the lip and mandible have been proposed. Most authors consider it to be a failure of fusion between two mandibular prominences of the first branchial arches.[10] However, the presence of rare combination of facial clefts and its association reinforces that these clefts may result from disruption in migration of neural crest cells from rhombomeres to the brachial arches because of genetic manipulation by teratogens. Women exposed to teratogenic agents such as thalidomide, primidone, and retinoic acid during pregnancy can have children with anomalies in the first and second pharyngeal arch structures.[11] Excessive retinoic acid binds to retinoic acid-receptor family and activates promoter region of retinoic acid response elements, which disrupts the expression of Hox genes and inhibit their ability to direct neural crest cell migration.[11] This is believed to be the basis for the craniofacial anomalies and extracranial manifestation of hemifacial microsomia. The theory of disruption in neural crest cell development along normal fusion planes in the developing facial skeleton also explained the presence of cleft lip and palate in this case.


  Conclusion Top


A unique clinical entity of median cleft of the lower lip in association with Goldenhar syndrome has been presented. These combinations of clefts reinforce the embryological basis that they are likely to result from disruption in the migration of neural crest cells from rhombomeres to branchial arches rather than other simplistic theories.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Kawamoto H, Wang MK, Macomber WB. Rare craniofacial clefts. Reconstr Plast Surg 1977;4:2116-64.  Back to cited text no. 1
    
2.
Rao AY. Complete midline cleft of lower lip, mandible, tongue, floor of mouth with neck contracture: A Case report and review of literature. Craniomaxillofac Trauma Reconstr 2015;8:363-9.  Back to cited text no. 2
[PUBMED]    
3.
Seyhan T, Kýlýnr H. Median cleft of the lower lip: Report of two new cases and review of the literature. Ann Otol Rhinol Laryngol 2002;111:217-21.  Back to cited text no. 3
    
4.
Braithwaite F, Watson J. A report on three unusual cleft lips. Br J Plast Surg 1949;2:38-49.  Back to cited text no. 4
[PUBMED]    
5.
Tanna N, Wan DC, Perry AD, Kawamoto HK, Bradley JP. Paramedian mandibular cleft: Revisiting the Tessier classification. J Craniofac Surg 2012;23:e38-40.  Back to cited text no. 5
[PUBMED]    
6.
Adetayo OA, Martin MC. A unique case of tessier 30 and bilateral cleft lip and palate: A new clinical syndrome? Cleft Palate Craniofac J 2013;50:117-21.  Back to cited text no. 6
[PUBMED]    
7.
Cousley RR, Calvert ML. Current concepts in the understanding and management of hemifacial microsomia. Br J Plast Surg 1997;50:536-51.  Back to cited text no. 7
    
8.
Tuin J, Tahiri Y, Paliga JT, Taylor JA, Bartlett SP. Distinguishing Goldenhar syndrome from craniofacial microsomia. J Craniofac Surg 2015;26:1887-92.  Back to cited text no. 8
    
9.
Deraje V, Ahuja RB. A rare combination of Tessier 2 cleft with Goldenhar syndrome. J Cleft Lip Palate Craniofac Anomalies 2016;3:100.  Back to cited text no. 9
    
10.
Oostrom CA, Vermeij-Keers C, Gilbert PM, van der Meulen JC. Median cleft of the lower lip and mandible: Case reports, a new embryologic hypothesis, and subdivision. Plast Reconstr Surg 1996;97:313-20.  Back to cited text no. 10
    
11.
Vastardis H, Spyropoulos MN, Burdi AR. Re-visiting the embryogenesis of the human lower lip: An overlooked paradigm. Front Physiol 2012;3:333.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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