Macrostomia in association with pre-auricular tags
a case report
DOI:
https://doi.org/10.5935/2525-5711.20160022Keywords:
Macrostomia, Craniofacial AbnormalitiesAbstract
Macrostomia is a rare congenital anomaly with an incompletely described pathogenesis and several distinct non-syndromic phenotypes are associated. Macrostomia and pre- auricular tags usually can be correlated with syndromes, but in isolated cases are less common. Case report: In this case show a girl presenting macrostomia and pre-auricular tags isolated without association syndromic or other apparent causes. In the anamnesis, parents reported having a pregnancy without complications. In ectoscopic tests, ultrasound, and intra-oral physical examination were not significant alterations found beyond macrostomia and pre-auricular tags. It performed surgery to correct macrostomia and withdrawal of pre-auricular tags. Discussion: Macrostomia is a rare malformation that can only be treated surgically. Various surgical techniques have been described in the literature for the correction of these defects. In this case, the surgical option was the Z-plasty technique, however others techniques can be chosen according to the position of facial cleft. Conclusion: Although rare in occurrence, requires further studies to a better knowledge leading to a more effective diagnosis and treatment of the patient.
References
Sowande OA, Anyanwu LJ, Ademuyiwa AO, Talabi AO, Adejuyigbe O. Macrostomia: a report of three cases. Ann Plast Surg. 2011;66:354-6.
Askar I, Gurlek A, Sevin K. Lateral facial clefts (macrostomia). Ann Plast Surg. 2001;47:355-6.
Kawai T, Kurita K, Echiverre NV, Natsume N. Modified technique in surgical correction of macrostomia. Int J Oral Maxillofac Surg. 1998;27:178-80.
Joshi M, Khandelwal S, Doshi B, Samvatsarkar S. Lateral cleft lip and macrostomia: Case report and review of the literature. J Indian Assoc Pediatr Surg. 2014;19:242-3.
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, et al. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015;97:99-110.
Slavotinek A. Fryns Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. All rights reserved.; 1993.
Golabi M, Leung A, Lopez C. Simpson-Golabi-Behmel Syndrome Type 1. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. All rights reserved.; 1993.
Gunturu S, Nallamothu R, Kodali RM, Nadella KR, Guttikonda LK, Uppaluru V. Macrostomia: a review of evolution of surgical techniques. Case Rep Dent. 2014;2014:471353.
Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet. 2011;12:125.
Fan WS, Mulliken JB, Padwa BL. An association between hemifacial microsomia and facial clefting. J Oral Maxillofac Surg. 2005;63:330-4.
Tessier P. Anatomical classification facial, cranio-facial and latero-facial clefts. J Maxillofac Surg. 1976;4:69-92.
Chauhan DS, Guruprasad Y. Bilateral Tessier's 7 Cleft with Maxillary Duplication. J Maxillofac Oral Surg. 2015;14:108-12.
Grabb WC. The first and second branchial arch syndrome. Plast Reconstr Surg. 1965;36:485-508.
Akinmoladun VI, Owotade FJ, Afolabi AO. Bilateral transverse facial cleft as an isolated deformity: case report. Ann Afr Med. 2007;6:39-40.
Habal MB, Scheuerle J. Lateral facial clefts: closure with W-plasty and implications of speech and language development. Ann Plast Surg. 1983;11:182-187.
Mohan RP, Verma S, Agarwal N, Singh U. Bilateral macrostomia. BMJ Case Rep. 2013;2013.
Gleizal A, Wan DC, Picard A, Lavis JF, Vazquez MP, Beziat JL. Bilateral macrostomia as an isolated pathology. Cleft Palate Craniofac J. 2007;44:58-61.
Khaleghnejad-Tabari A, Salem K, Ghajar MF. Treatment of bilateral macrostomia (lateral lip cleft): case report. Iran J Pediatr. 2012;22:425-7.
Nathani NK, Bariar LM, Ahmad I, Khan MA. An isolated bilateral pure macrostomia in a 2-year-old girl. J Craniofac Surg. 2008;19:1409-10.
Buonocore S, Broer PN, Walker ME, da Silva Freitas R, Franco D, Alonso N. Macrostomia: a spectrum of deformity. Ann Plast Surg. 2014;72:363-8.
Fan Z, Du J, Liu H, Zhang H, Dlugosz AA, Wang CY, et al. A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation. Am J Med Genet A. 2009;149a:521-4.
Fadeyibi IO, Ugburo AO, Ogunbanjo CV, Ilombu CA, Ademiluyi SA. The surgical repair of macrostomia. Cleft Palate Craniofac J. 2009;46:642-7.
Ono I, Tateshita T. New surgical technique for macrostomia repair with two triangular flaps. Plast Reconstr Surg. 2000;105:688-94.
Eguchi T, Asato PH, Takushima A, Takato T, Harii PK. Surgical repair for congenital macrostomia: vermilion square flap method. Ann Plast Surg. 2001;47:629-35.
Kobraei EM, Lentz AK, Eberlin KR, Hachach-Haram N, Hamdan US. Macrostomia: A Practical Guide for Plastic and Reconstructive Surgeons. J Craniofac Surg. 2016;27:118-23.
