Oculo-facio-cardio-dental (OFCD) syndrome.
Oculo-facio-cardio-dental (OFCD) syndrome.
复制标题
眼-面-心-齿（OFCD）综合征。
DOI：
10.1097/00019605-199707000-00014
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发表时间：
1997
影响因子：
0.7
通讯作者：
R. Gorlin
中科院分区：
文献类型：
--
作者：
H. Obwegeser;R. Gorlin
术语眼-面-牙-牙（OFCD）综合征是由Gorlin等人提出的。（1996）描述特征相组合（长脸伴面中部发育不全、尖鼻轮廓伴尖部软骨分离）、犬神经根肥大伴尖部开放（即使在成年期）、先天性白内障和小眼畸形伴或不伴继发性青光眼、先天性心脏异常（ASD，VSD，二尖瓣松弛），趾2-3并指，腭裂或粘膜下腭裂，偶尔感音神经性听力损失和阴道隔膜。海沃德（1980）可能是第一个报道先天性白内障与犬神经根肥大相关的人。Marashi和Gorlin（1990年，1992年）报告了这种组合的其他例子。Wilkie等人（1993）通过报道一对患有先天性白内障、小眼畸形、心脏间隔缺损、特征性面容、犬神经根肥大和趾2-3皮肤并指畸形的母女扩展了该综合征。Aalfs等人（1995）增加了两名具有非常相似特征的不相关女性患者。另外，一个有腭裂，另一个有阴道隔膜。Gorlin等人（1996）审查了所有报告的案件。虽然在那篇论文中简要地报道了以下病例，但我们既没有提供图片，也没有详细的报告。
The term Oculo-Facio-Cardio-Dental (OFCD) syndrome was introduced by Gorlin et al.(1996) to describe the association of characteristic facies (long face with midfacial hypoplasia, pointed nose in profile with separated cartilages at the tip), canine radiculomegaly with open apices even in adult years, congenital cataracts and microphthalmia with or without secondary glaucoma, congenital heart anomalies (ASD, VSD, floppy mitral valve), syndactyly of toes 2–3, cleft palate or submucous cleft palate, and occasional sensorineural hearing loss and a septate vagina. Hayward (1980) was probably the first to report the association of congenital cataracts and canine radiculomegaly. Marashi and Gorlin (1990, 1992) reported additional examples of this combination. Wilkie et al.(1993) expanded the syndrome by reporting a mother and daughter with congenital cataract, microphthalmia, septal heart defect, characteristic facies, canine radiculomegaly and cutaneous syndactyly of toes 2–3. Aalfs et al.(1995) added two unrelated female patients with very similar features. In addition, one had a cleft palate, another had a septate vagina. Gorlin et al.(1996) reviewed all reported cases. Although the following case was reported in brief in that paper we presented neither the pictures, nor a detailed report.