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Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency.
Am J Med Genet. 1997 Jan 20; 68(2):168-72.AJ

Abstract

We report on 2 brothers with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and hypothalamo-pituitary insufficiency. Both had hypogonadotropic hypogonadism. One brother had partial TSH and prolactin deficiency, and the other had mild primary hypothyroidism, due most probably to irradiation therapy which he had undergone a few years earlier because of Hodgkin disease. The association of hypogonadotropic hypogonadism with EEC was reported once previously. Hypothalamopituitary dysfunction could be considered as yet another manifestation of EEC syndrome. This report reconfirms that EEC syndrome is a pleiotropic trait with reduced penetrance. Alternatively, we may be dealing with a (new) autosomal or X-linked recessive condition.

Authors+Show Affiliations

Department of Human Genetics, Rambam Medical Center, Haifa, Israel.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9028452

Citation

Gershoni-Baruch, R, et al. "Ectrodactyly-ectodermal Dysplasia-clefting Syndrome and Hypothalamo-pituitary Insufficiency." American Journal of Medical Genetics, vol. 68, no. 2, 1997, pp. 168-72.
Gershoni-Baruch R, Goldscher D, Hochberg Z. Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. Am J Med Genet. 1997;68(2):168-72.
Gershoni-Baruch, R., Goldscher, D., & Hochberg, Z. (1997). Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. American Journal of Medical Genetics, 68(2), 168-72.
Gershoni-Baruch R, Goldscher D, Hochberg Z. Ectrodactyly-ectodermal Dysplasia-clefting Syndrome and Hypothalamo-pituitary Insufficiency. Am J Med Genet. 1997 Jan 20;68(2):168-72. PubMed PMID: 9028452.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency. AU - Gershoni-Baruch,R, AU - Goldscher,D, AU - Hochberg,Z, PY - 1997/1/20/pubmed PY - 2000/6/20/medline PY - 1997/1/20/entrez SP - 168 EP - 72 JF - American journal of medical genetics JO - Am J Med Genet VL - 68 IS - 2 N2 - We report on 2 brothers with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and hypothalamo-pituitary insufficiency. Both had hypogonadotropic hypogonadism. One brother had partial TSH and prolactin deficiency, and the other had mild primary hypothyroidism, due most probably to irradiation therapy which he had undergone a few years earlier because of Hodgkin disease. The association of hypogonadotropic hypogonadism with EEC was reported once previously. Hypothalamopituitary dysfunction could be considered as yet another manifestation of EEC syndrome. This report reconfirms that EEC syndrome is a pleiotropic trait with reduced penetrance. Alternatively, we may be dealing with a (new) autosomal or X-linked recessive condition. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9028452/Ectrodactyly_ectodermal_dysplasia_clefting_syndrome_and_hypothalamo_pituitary_insufficiency_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1997&volume=68&issue=2&spage=168 DB - PRIME DP - Unbound Medicine ER -