title: Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndrome.
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.
authors.affiliation: Centre de Génétique Humaine, Institute de Morphologie Pathologique, Loverval, Belgium.
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: Y
authors.initials: Y
authors.lastname: Gillerot
authors.forename: E
authors.initials: E
authors.lastname: Vamos
authors.forename: M
authors.initials: M
authors.lastname: Toppet
authors.forename: P
authors.initials: P
authors.lastname: Watillon
authors.forename: G
authors.initials: G
authors.lastname: Van Vliet
mesh_terms: D000015:Abnormalities, Multiple; D002971:Cleft Lip / Q000150:complications* / Q000601:surgery; D002972:Cleft Palate / Q000150:complications* / Q000601:surgery; D003677:Deficiency Diseases / Q000151:congenital*; D003919:Diabetes Insipidus / Q000151:congenital* / Q000175:diagnosis / Q000188:drug therapy; D004476:Ectodermal Dysplasia / Q000150:complications*; D013006:Growth Hormone / Q000172:deficiency*; D006228:Hand Deformities, Congenital / Q000150:complications*; D016142:Holoprosencephaly / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D014667:Vasopressins / Q000172:deficiency*
chemical_list: D014667:Vasopressins; D013006:Growth Hormone