Van Maldergem L, Gillerot Y, Vamos E, Toppet M, Watillon P, Van Vliet G
Centre de Génétique Humaine, Institute de Morphologie Pathologique, Loverval, Belgium.
Acta Paediatr. 1992 Apr;81(4):365-7. doi: 10.1111/j.1651-2227.1992.tb12246.x.
A boy presented with ectrodactyly (lobster claw deformity), bilateral cleft lip and palate, semilobar holoprosencephaly and microcephaly, associated with congenital hypogonadotropic hypogonadism and central diabetes insipidus. Other aspects of pituitary function were normal. We suggest that the ectrodactyly-ectodermal dysplasia-clefting syndrome can be associated with a variety of hypothalamo-pituitary dysfunctions, in addition to the already described isolated growth hormone deficiency.
一名男孩出现了缺指（趾）畸形（龙虾爪样畸形）、双侧唇腭裂、半侧脑叶全前脑畸形和小头畸形，并伴有先天性低促性腺激素性性腺功能减退和中枢性尿崩症。垂体功能的其他方面正常。我们认为，除了已描述的孤立性生长激素缺乏外，缺指（趾）-外胚层发育不良-裂综合征可能与多种下丘脑-垂体功能障碍有关。
