Heike Carrie L, Luquetti Daniela V, Hing Anne V
Associate Professor, Department of Pediatrics, Children's Craniofacial Center, Division of Craniofacial Medicine, University of Washington and Seattle Children’s Hospital, Seattle, Washington
Assistant Professor, Department of Pediatrics, Children's Craniofacial Center, Division of Craniofacial Medicine, University of Washington and Seattle Children’s Hospital, Seattle, Washington
NOTE: THIS PUBLICATION HAS BEEN RETIRED. THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE.
Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Characteristic findings include facial asymmetry resulting from maxillary and/or mandibular hypoplasia; preauricular or facial tags; ear malformations that can include microtia (hypoplasia of the external ear), anotia (absence of the external ear), or aural atresia (absence of the external ear canal); and hearing loss. Severity can range from subtle facial asymmetry with a small skin tag in front of an otherwise normal-appearing ear to bilateral involvement (typically asymmetric), microtia/anotia with atresia of the ear canals, microphthalmia, and respiratory compromise from severe mandibular hypoplasia. Other craniofacial malformations including cleft lip and/or palate can be seen. Non-craniofacial malformations, especially vertebral, renal, cardiac, and limb, can be seen.
DIAGNOSIS/TESTING: The diagnosis of CFM is based on clinical findings.
CFM most frequently occurs as a simplex case (i.e., occurrence in a single individual in a family) with unknown etiology; recurrence risks are empiric. If an individual with CFM is found to have an inherited or chromosome abnormality, genetic counseling for that condition is indicated. Occasional autosomal dominant or autosomal recessive inheritance is observed. If a proband has CFM and no reported family history of CFM, the risk to sibs is 2%-3%, although this may be an underestimate because of low penetrance and the difficulty of obtaining an accurate family history for some of the subtle features of CFM.
For optimal outcome children with CFM require timely and coordinated assessments and interventions. Ideally, children should be managed by an experienced multidisciplinary craniofacial team. The goals of treatment for CFM are to assure adequate respiratory support and feeding in infants with severe facial malformations, maximize hearing and communication, improve facial symmetry, and optimize dental occlusion. Treatment is age-dependent, with time-sensitive interventions at appropriate stages of craniofacial growth and development.
注意：本出版物已停用。此存档版本仅用于历史参考，信息可能过时。
颅面短小畸形（CFM）包括一系列主要累及源于第一和第二鳃弓结构的畸形。特征性表现包括上颌骨和/或下颌骨发育不全导致的面部不对称；耳前或面部赘生物；耳部畸形，可包括小耳畸形（外耳发育不全）、无耳畸形（外耳缺失）或耳道闭锁（外耳道缺失）；以及听力丧失。严重程度范围从外观正常耳朵前方有一个小皮肤赘生物的轻微面部不对称到双侧受累（通常不对称）、伴有耳道闭锁的小耳畸形/无耳畸形、小眼畸形以及严重下颌骨发育不全导致的呼吸功能受损。还可见其他颅面畸形，包括唇裂和/或腭裂。也可见非颅面畸形，尤其是脊柱、肾脏、心脏和肢体畸形。
诊断/检查：CFM的诊断基于临床发现。
CFM最常表现为散发病例（即家族中单个个体发病），病因不明；复发风险基于经验。如果发现患有CFM的个体存在遗传或染色体异常，则需针对该病症进行遗传咨询。偶尔可见常染色体显性或常染色体隐性遗传。如果先证者患有CFM且无CFM家族史报告，其同胞的患病风险为2%-3%，不过由于外显率低以及获取CFM某些细微特征准确家族史存在困难，这一风险可能被低估。
为获得最佳治疗效果，CFM患儿需要及时且协调的评估和干预。理想情况下，应由经验丰富的多学科颅面团队对患儿进行管理。CFM的治疗目标是确保严重面部畸形婴儿获得足够的呼吸支持和喂养，最大限度提高听力和沟通能力，改善面部对称性，并优化牙列咬合。治疗取决于年龄，在颅面生长发育的适当阶段进行具有时间敏感性的干预。
