Macrostomia

Updated 3/2017-- photos and all links removed as many are no longer active and it was easier than checking each one.

 
The word macromastia simply means "abnormal largeness of the mouth". It is much too simple a word.

Congenital macrostomia or transverse facial cleft or Tessier No 7 is a rare congenital craniofacial anomaly. Transverse facial clefts account for only 1 in 100 to 1 in 300 of all patients with facial clefts. It is estimated to occur in 1 in 80,000 live births. Males are more frequently affected than females. Bilateral involvement is rare. When unilateral, the left side is most frequently affecte.

It has been termed as hemifacial microsomia, craniofacial microsomia, first and second branchial arch syndrome and otomandibular dysostosis. Clinical expression is variable. A preauricular skin tag can be present in microform cases. In it’s complete form, cleft begins as a macrostomia at the oral commissure and continuous across the cheek toward a microtic ear (photo of extreme case). All soft tissues may be underdeveloped on affected site. Osseous manifestations also cover a wide range.

Unilateral first and second branchial arch syndrome is almost always sporadic in occurrence. Facial features begin to develop during the fourth week of embryonic life and differentiation of structures progresses through the eighth to ninth week. This link shows an animation of the normal development of the face. Some evidence suggests that disturbance in the embryonic blood supply, the stapedial artery that provides temporary blood supply to this area in the embryo, during mesechymal ingrowth could result in first arch deformities in the developing face.

Regardless of the cause, the mouth deformity is one of muscle, subcutaneous tissue, and skin. The deformity is particularly evident when the affected child cries or laughs because the absence of the orbicularis oris muscle allows a wide gapping of the commissure. Supernumerary auricular cartilage anterior to the tragus and anomalies in the ipsilateral (same side) ear lobule are present in almost all individuals with this syndrome.

The operative technique for repair should be designed to reconstruct the muscular continuity of the orbicularis, preserve the rounded commissure with vermillion, and minimize scar formation. The standard correction uses an overlapping myoplasty at the commissure and a Z-plasty for the skin closure. Some would argue that a better scar is obtained by the straight line method. 

References

• A Rare Craniofacial Cleft: Tessier No. 7: A Retrospective Analysis; Journal of Ankara Medical School Vol 24, No 2, 2002 63-68; Serdar Gökrem, Orhan Murat Özdemir, Arda Katırcıoğlu, Zeynep Şen, Atilla Ersoy, Zeki Can, Murat Emiroğlu, Serdar Gültan
• Common Craniofacial Anomalies: The Facial Dysostoses; Plastic & Reconstructive Surgery. 110(7):1714-1726, December 2002; Hunt, Jeremy A. M.D.; Hobar, P. Craig M.D.
• Anatomical classification of facial, cranio-facial and latero-facial clefts; J. Maxillofac. Surg. 4: 69, 1976; Tessier, P
• Manifestations of Craniofacial Syndromes by Ted L Tewfik, MD, FRCSC--eMedicine Article
• Picture of the Month; Arch Pediatr Adolesc Med, Vol 153, Aug 1999, pp 889-890; Mendez, Robero MD, et al
• Macrostoma Repair: 15-Year Experience; Plastic & Reconstructive Surgery. 119(2):757-758, February 2007; Lezama-Reus, Marco A. M.D.; Moreno-Penagos, Gregorio M.D.; Ramirez-Ledesma, Sergio G. M.D.; Lozano-Gutierrez, Marco A. M.D.; Ramos-Valdelamar, Francisco M.D.
• Straight Line Closure of Congenital Macrostomia; Indian J Plastic Surg, July-December 2004 Vol 37 Issue 2; Schwarz, Richard; Sharma, Digvijay
• Normal Lip Anatomy--wonderful slides