Related Experiment Videos
Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndrome
L Van Maldergem1, Y Gillerot, E Vamos
1Centre de Génétique Humaine, Institute de Morphologie Pathologique, Loverval, Belgium.
Acta Paediatrica (Oslo, Norway : 1992)
|April 1, 1992
Abstract:
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.