Flatz S D, Schinzel A, Doehring E, Kamran D, Eilers E
Eur J Pediatr. 1984 Jan;141(3):183-5. doi: 10.1007/BF00443223.
We report two patients with Opitz trigonocephaly syndrome. Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad alveolar ridges, small chin, short neck with loose skin, muscular hypotonia and cardiac defect. An 8-week-old girl had multiple gingival frenula, brachydactyly, syndactyly of toes and anal stenosis in addition, while a boy who died at 28 h from cardiac failure showed multiple joint contractures, cryptorchidism and renal cortical cysts.
我们报告了两名患有Opitz三角头畸形综合征的患者。两名患儿均表现出该综合征特有的异常表现模式，包括三角头畸形、睑裂向上倾斜、内眦赘皮、宽阔的牙槽嵴、小下巴、颈部短且皮肤松弛、肌张力减退和心脏缺陷。一名8周大的女孩还伴有多个牙龈系带、短指畸形、并趾畸形和肛门狭窄，而一名出生28小时死于心力衰竭的男孩则表现出多处关节挛缩、隐睾和肾皮质囊肿。
