Neidich J A, Whitaker L A, Natowicz M, McDonald D M, Schnur R, Zackai E H
Department of Clinical Genetics, Children's Hospital of Philadelphia, Pennsylvania 19104.
Am J Med Genet Suppl. 1988;4:161-6. doi: 10.1002/ajmg.1320310516.
We describe a severe first branchial arch abnormality including nearly complete absence of mandible, hypoplasia of the maxilla and the zygomatic arches, and complete gingival fusion in a chromosomally normal child born to a nonconsanguineous couple who deny prenatal exposures. A tight orbicularis oris muscle caused the lips to be constantly pursed. Intraoral contents could only be defined after the fused gingiva were separated. The infant had hypoplasia of the buccal cavity with a persistent membrane separating it from the pharynx; palate structures and tongue were absent. The orbits and midface were severely hypoplastic. However, the ears were normal in shape and only slightly low in position. There was unilateral optic nerve coloboma and coronal craniosynostosis. The only noncraniofacial malformation was an atrial septal defect. Embryologically, there is severe malformation of structures arising from the cephalic neural crest cells of both the maxillary and mandibular prominences of the first branchial arch. However, the first branchial cleft region was spared.
我们描述了一例严重的第一鳃弓异常病例，该病例发生在一对非近亲结婚且否认孕期有不良暴露史的夫妇所生的染色体正常儿童身上，表现为几乎完全没有下颌骨、上颌骨和颧骨发育不全以及完全性牙龈融合。口轮匝肌紧张导致嘴唇持续噘起。只有在分离融合的牙龈后才能明确口腔内的情况。该婴儿颊腔发育不全，有一层持续存在的膜将其与咽部隔开；腭结构和舌缺失。眼眶和中面部严重发育不全。然而，耳朵形状正常，位置仅略低。存在单侧视神经缺损和冠状缝早闭。唯一的非颅面部畸形是房间隔缺损。从胚胎学角度来看，第一鳃弓上颌和下颌隆起的头部神经嵴细胞所产生的结构存在严重畸形。然而，第一鳃裂区域未受影响。
