Goddard Deborah S, Liang Marilyn G, Chamlin Sarah L, Svoren Britta M, Spack Norman P, Mulliken John B
Harvard Medical School, Boston, Massachusetts, USA.
Pediatr Dermatol. 2006 Sep-Oct;23(5):476-80. doi: 10.1111/j.1525-1470.2006.00287.x.
The association consisting of posterior fossal malformations, cervicofacial, hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and sternal clefting, or supraumbilical raphe, refers to the occurrence of congenital structural and vascular anomalies in the presence of a facial hemangioma. We report a patient with this association, growth retardation, and developmental delay who was found to have a partially empty sella turcica, central hypothyroidism, and growth hormone deficiency. Endocrinologic evaluation should be considered in any infant with this association.
由后颅窝畸形、头颈部血管瘤、动脉异常、心脏缺陷、眼部异常以及胸骨裂或脐上缝构成的综合征，指的是在面部血管瘤存在的情况下出现先天性结构和血管异常。我们报告了一名患有该综合征、生长发育迟缓的患者，该患者被发现存在部分空蝶鞍、中枢性甲状腺功能减退和生长激素缺乏。对于任何患有该综合征的婴儿都应考虑进行内分泌学评估。
