Disclaimer: The information contained within the Grand Rounds Archive is intended for use by doctors and other health care professionals. These documents were prepared by resident physicians for presentation and discussion at a conference held at Baylor College of Medicine in Houston, Texas. No guarantees are made with respect to accuracy or timeliness of this material. This material should not be used as a basis for treatment decisions, and is not a substitute for professional consultation and/or peer-reviewed medical literature.

Craniofacial microsomia is a spectrum of morphogenetic abnormalities involving structures derived from the first and second branchial arches. It is the second most common facial birth defect after cleft lip and palate. Fourteen terms describing this malformation complex can be found in the literature including First and Second Branchial Arch Syndrome, Hemifacial Microsomia, and Goldenhar-Gorlin Syndrome. Goldenhar Syndrome is now considered a variant of craniofacial microsomia.

The Otolaryngologist/Head and Neck Surgeon becomes involved with these patients for several reasons. The parotid can be malformed or missing, auricular and facial nerve abnormalities have been reported in up to fifty percent of affected children, and hearing loss to varying degrees present cause for otolaryngologic evaluation. Isolated microtia is now considered a microform of craniofacial microsomia and should prompt thorough evaluation before undertaking cosmetic repairs.

Meurman, in 1957, proposed the first classification scheme for craniofacial microsomia based on auricular findings. Later evaluations found that external ear malformations effectively predicted facial nerve dysfunction but had no correlation to the severity of skeletal dysmorphology. Murray has proposed a new scheme based on skeletal abnormalities which has proven useful in planning surgical management in this diverse group of patients. Type one patients have small mandibles with normal shape, a normal glenoid fossa and a short mandibular ramus. Type two findings include an anteriorly and medially displaced temporomandibular joints (TMJ), a short and abnormally shaped ramus, and an abnormally contoured TMJ cavity. Complete absence of the mandibular ramus and glenoid fossa, no TMJ and the body of the mandible ending at the molar region classifies type three patients.

Paramount to the understanding of craniofacial microsomia is an appreciation of head and neck embryology. Development of the branchial arches, facial growth, and differential craniofacial growth contribute to the formation of the facial structures. For a comprehensive review of branchial arch and facial embryology please refer to The Developing Human by K.L. Moore listed in the accompanying bibliography. A succinct review of differential craniofacial growth can be found in Pediatric Otolaryngology by Bluestone and Stool, also listed in the bibliography attatched.

Craniofacial Microsomia has an incidence reported between 1/3500 to 1/26,550 live births. The male to female and right to left sided ratios are both 3:2. Bilateral involvement occurs in roughly ten percent of cases. The majority of cases are sporadic with no definite inheritance being proven in the literature. Recurrence risk is consistently reported at 2-3 percent for subsequent pregnancies.

In a paper published in 1973, Poswillo attributed the development of facial deformities consistent with craniofacial microsomia to disruption of the stapedial artery. The stapedial artery functions as a stopgap vascular channel during days 33-45 of embryologic development. Poswillo fed pregnant rats triazene and pregnant monkeys thalidomide and showed the consistent maldevelopment of first and second branchial arch structures. Robinson in 1987 supported Poswillo's theory by demonstrating carotid flow abnormalities in two and defects related to vascular disruption in a third child with craniofacial microsomia.

The evaluation of craniofacial microsomia includes a thorough history and physical examination, photographic and cephalometric analysis, and three dimensional computed tomographic study. Family history of consanguinuity, intrauterine exposure to infection and toxins, and problems with delivery should be explored. Physical exam should focus on facial assymetry as well as on isolated findings consistent with this syndrome. Photographs and cephalometry allow for monitoring of facial symmetry over time and aid in planning surgical approaches to individual patients. Three dimensional computed tomography provides accurate reconstruction of patients' craniofacial skeletons and alleviates the need for constructing physical models. This allows for faster and more accurate surgical planning.

Treatment of craniofacial microsomia is individualized. Principles basic to all cases include treating bony tissue deficits first, followed by soft tissue augmentation. The mandible is addressed initially since correction of mandibular malformations often stimulates maxillary growth. Maxillary growth is further enhanced with the use of maxillary activators. Costochondral grafts must be used in TMJ reconstructions. Soft tissue deficits are corrected with local and microvascular free flaps. Facial nerve defects usually are permanent and hearing must be assessed early to allow for hearing augmentation. Reconstruction of middle ear structures is often delayed until craniofacial reconstruction is complete.

Craniofacial microsomia is a syndrome with diverse presentation. The majority of cases are sporadic with stapedial artery disruption being considered the most likely etiology. Current classification is based on skeletal abnormalities. Treatment schemes are adapted to the specific dysmorphology of individual patients.

An eleven-year-old white female is currently undergoing comprehensive management for craniofacial microsomia at Texas Children's Hospital. She has an unaffected identical twin. She had a left-sided Class III-a deformity with macrostomia, a functioning facial nerve, no orbital findings and a sixty dB conductive hearing loss on the affected side with normal right-sided hearing. Surgical management began with correction of her macrostomia on January 13, 1983. On January 17, 1986 a right-sided mandibular osteotomy with left-sided rib bone grafting and split calvarial mandibular only bone grafting provided for the first stage of mandibular reconstruction. A mid-face activator was positioned at that time and is currently still in use. In April of 1989 further mandibular reconstruction with autogenous bone graft completed mandibular reconstruction. She has normal speech and development and is currently underway with orthodontic manipulation of both maxillary and mandibular teeth.

Future plans include increased bulking of left-sided facial soft tissues with a microvascular free flap, continued use of the activator and reconstruction of the left external auditory canal.

Bennun RD, Mulliken JB, Kaban LB, et al: Microtia: A microform of hemifacial microsomia. Plast Reconstr Surg 76:859-865, 1985.

Bluestone CD, Stool SE: Pediatric Otolaryngology, second ed. Philadelphia, W.B.Saunders, 1990, pp 1-74.

Burck U: Genetic aspects of hemifacial microsomia. Hum Genet 64:291-296, 1983.

Caldarelli DD, Hutchinson JC, Gould HJ: Hemifacial microsomia: Priorities and sequence of comprehensive otologic management. Cleft Palate J 17:111-115, 1980.

Carlotti AE: A viable treatment alternative for hemifacial microsomia. Case Report. J Maxillofac Surg 9:176-179, 1981.

Chierici G: Treatment of Hemifacial Microsomia. New York, Alan R. Liss Inc., 1983, pp 57-87.

Converse JM, Coccaro PJ, Becker M, et al: On hemifacial microsomia - the first and second branchial arch syndrome. Plast Reconstr Surg 51:268-279, 1973.

Converse JM, Wood-Smith D, McCarthy JG, et al: Bilateral facial microsomia - diagnosis, classification, treatment. Plast Reconstr Surg 54:413-423, 1974.

Crysdale WS: Otorhinolaryngologic problems in patients with craniofacial anomalies. Otolaryngol Clin North Am 14:145-155, 1981.

Farkas LG, Kolar JC, Munro IR: Craniofacial disproportions in Apert's syndrome: an anthropometric study. Cleft Palate J 22:253-265, 1985.

Figueroa AA, Friede H: Craniovertebral malformations in hemifacial microsomia. J Craniofac Genet Dev Biol Suppl 1:167-178, 1985.

Fisher J, Jackson IT: Microvascular surgery as an adjunct to craniomaxillofacial reconstruction. Br J Plast Surg 42:146-154, 1989.

Gallagher DM, Hyler RL, Epker BN: Hemifacial microsomia: An anesthetic airway problem. Oral Surg Oral Med Oral Pathol 49:2-4, 1980.

Gellad FE, Haney PJ, Sun JC, et al: Imaging modalities of craniosynostosis with surgical and pathological correlation. Pediatr Radiol 15:285-290, 1985.

Gorlin RJ, Cohen MM, Levin LS: Syndromes of The Head and Neck, third ed. New York, McGraw-Hill, 1990, pp 641-51.

Grabb WC: The first and second branchial arch syndrome. Plast Reconstr Surg 36:485-508, 1965.

Hemmer KM, Marsh JL, Clement RW: Pediatric facial free flaps. J Reconstr Microsurg 3:221-229, 1987.

Jones KL, Higginbottom MC: Dysmorphology: An approach to diagnosing children with structural defects of the head and neck. Head Neck Surg 1:35-46, 1978.

Jones NF: The contribution of microsurgical reconstruction to craniofacial surgery. World J Surg 13:454-464, 1989.

Juriloff DM, Harris MJ, Froster-Iskenius U: Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: A possible genetic model for hemifacial microsomia. J Craniofac Genet Dev Biol 7:27-44, 1987.

Kaban LB, Mulliken JB, Murray JE: Three-dimensional approach to analysis and treatment of hemifacial microsomia. Cleft Palate J 18:90-99, 1981.

Karmody CS: A classification of the anomalies of the first branchial groove. Otolaryngol Head Neck Surg 87:334-338, 1979.

Kawamoto HK: The kaleidoscopic world of rare craniofacial clefts: Order out of chaos (Tessier classification). Clin Plast Surg 3:529-572, 1976.

Keusch CF, Mulliken JB, Kaplan LC: Craniofacial anomalies in twins. Plastic Reconstr Surg 87:16-23, 1991.

LaRossa D, Whitaker L, Dabb R, et al: The use of microvascular free flaps for soft tissue augmentation of the face in children with hemifacial microsomia. Cleft Palate J 17:138-143, 1980.

Lauritzen C, Lilja J, Jarlstedt J: Airway obstruction and sleep apnea in children with craniofacial anomalies. Plast Reconstr Surg 77:1-6, 1986.

Lauritzen C, Munro IR, Ross RB: Classification and treatment of hemifacial microsomia. Scand J Plast Reconstr Surg 19:33-39, 1985.

Loevy HT, Shore SW: Dental maturation in hemifacial microsomia. J Craniofac Genet Dev Biol Suppl 1:267-272, 1985.

Longacre JJ, deStefano GA, Holmstrand KE: The surgical management of first and second branchial arch syndromes. Plast Reconstr Surg 31:507-520, 1963.

Mathog RH: Maxillofacial Trauma. Baltimore, Williams and Wilkins, 1984, pp 115-23.

Mathog RH, Leonard MS: Surgical correction of Goldenhar's syndrome. Laryngoscope 90:1137-1147, 1980.

Miller MT: Association of Duane Retraction syndrome with craniofacial malformations. J Craniofac Genet Dev Biol Suppl 1:273-282, 1985.

Moore KL: The Developing Human, third ed. Philadelphia, W.B. Saunders Company, 1982, pp 179-215.

Munro IR: Current surgery of craniofacial anomalies. Otolaryngol Clin North Am 14:157-166, 1981.

Munro IR: One-stage reconstruction of the temporomandibular joint in hemifacial microsomia. Plast Reconstr Surg 66:699-710, 1980.

Munro IR: Rigid fixation and facial asymmetry. Clin Plast Surg 16:187-194, 1989.

Munro IR: Treatment of craniofacial microsomia. Clin Plast Surg 14:177-186, 1987.

Murray JE, Kaban LB, Mulliken JB: Analysis and treatment of hemifacial microsomia. Plast Reconstr Surg 74:186-199, 1984.

Neu KW, Friedman JM, Howard-Peebles PN: Hemifacial microsomia in cri du chat (5p-) syndrome. J Craniofac Genet Dev Biol 2:295-298, 1982.

Ortiz-Monasterio F: Early mandibular and maxillary osteotomies for the correction of hemifacial microsomia. Clin Plast Surg 9:509-517, 1982.

Ousterhout DK, Vargervik K: Surgical treatment of the jaw deformities in hemifacial microsomia. Aust NZ J Surg 57:77-87, 1987.

Paparella MJ, Shumrick DA, Gluckman JL, et al: Otolaryngology, third ed. Philadelphia, W.B. Saunders Company, 1991, pp. 2897-2914.

Phelps PD, Lloyd GAS, Poswillo DE: The ear deformities in craniofacial microsomia and oculo-auriculo-vertebral dysplasia. J Laryngol Otol 97:995-1005, 1983.

Pisarek W: Reconstruction of craniofacial microsomia and hemifacial atrophy with free latissimus dorsi flap. Acta Chir Plast 30:194-201, 1988.

Poole MD: A composite flap for early treatment of hemifacial microsomia. Br J Plast Surg 42:163-172, 1989.

Poswillo D: The pathogenesis of the first and second branchial arch syndrome. Oral Surg Oral Med Oral Pathol 35:302-328, 1973.

Robinson LK, Hoyme HE, Edwards DK, Jones KL: Vascular pathogenesis of unilateral craniofacial defects. J Pediatr 111:236-239, 1987.

Rollnick BR, Kaye CI: Hemifacial microsomia and the branchio-oto-renal syndrome. J Craniofac Genet Dev Biol Suppl 1:287-295, 1985.

Rollnick BR, Kaye CI: Hemifacial microsomia and variants: Pedigree data. Am J Med Genet 15:233-253, 1983.

Salyer KE: Craniofacial anomalies. Selected Readings in Plast Surg 1:1-26, 1981.

Smahel Z: Craniofacial changes in hemifacial microsomia. J Craniofac Genet Dev Biol 6:151-170, 1986.

Stringer DE, Steed DL, Johnson RP, et al: Correction of hemifacial microsomia. J Oral Surgery 39:35-39, 1981.

Taysi K, Marsh JL, Wise DM: Familial hemifacial microsomia. Cleft Palate J 20:47-53, 1983.

Wilson GN, Barr M: Trisomy 9 mosaicism: Another etiology for the manifestations ofGoldenhar syndrome. J Craniofac Genet Dev Biol 3:313-316, 1983.

Work WP: Newer concepts of first branchial cleft defects. Laryngoscope 82:1581-1593, 1972.

Zide B, Grayson B, McCarthy JG: Cephalometric analysis: part I. Plast Reconstr Surg 68:816-823, 1981.

Zide B, Grayson B, McCarthy JG: Cephalometric analysis for upper and lower midfacesurgery: Part II. Plast Reconstr Surg 68:961-68, 1981.

Grand Rounds Archive | Department Home page

BCM Public | BCM Intranet | Privacy Notices | Contact BCM | BCM Site Map |

©2001-2006 Baylor College of Medicine
Bobby R. Alford Department of Otolaryngology-Head and Neck Surgery
Mail: One Baylor Plaza, NA102, Houston, TX 77030
Phone: 713-798-5906
E-mail: oto@bcm.edu

Last modified: Feb. 7, 2006