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  • Title: Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndrome.
    Author: Van Maldergem L, Gillerot Y, Vamos E, Toppet M, Watillon P, Van Vliet G.
    Journal: Acta Paediatr; 1992 Apr; 81(4):365-7. PubMed ID: 1606403.
    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.
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