Shprintzen R J
Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome, Department of Otolaryngology and Communication Science, Upstate Medical University, Syracuse, New York, USA.
Otolaryngol Clin North Am. 2000 Dec;33(6):1217-40, vi. doi: 10.1016/s0030-6665(05)70278-4.
Velocardiofacial syndrome is one of the most common multiple-anomaly syndromes in humans. With its many otolaryngologic manifestations and its almost ubiquitous effects on speech, language, hearing, immune dysfunction, and airway problems, velocardiofacial syndrome may be the most common genetic disorder seen by pediatric otolaryngologists. Individuals affected with velocardiofacial syndrome look essentially normal making identification of the syndrome difficult, especially in infants. It is critical for otolaryngologists to be familiar with the symptom complex associated with velocardiofacial syndrome so as to understand the unique manifestations of this complex disorder.
腭心面综合征是人类最常见的多发畸形综合征之一。由于其具有众多耳鼻喉科表现，且几乎对言语、语言、听力、免疫功能障碍及气道问题均有普遍影响，腭心面综合征可能是儿科耳鼻喉科医生所见的最常见的遗传性疾病。患有腭心面综合征的个体外观基本正常，这使得该综合征的识别较为困难，尤其是在婴儿中。耳鼻喉科医生熟悉与腭心面综合征相关的症状复合体至关重要，以便了解这种复杂疾病的独特表现。
