Tags

Type your tag names separated by a space and hit enter

Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child.
Am J Med Genet. 1996 Jun 14; 63(3):479-81.AJ

Abstract

We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with ectrodactyly, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome. This observation suggests that the Rapp-Hodgkin type of ectodermal dysplasia and EEC syndrome, both defined as autosomal dominant conditions with variable expression, may be manifestations of the same mutated gene. We also want to emphasize that urogenital anomaly is another hallmark of the EEC syndrome.

Links

Publisher Full Text

Authors+Show Affiliations

Moerman P
Department of Pathology, Katholieke Universiteit Leuven, Belgium.
Fryns JP
No affiliation info available

MeSH

Abnormalities, MultipleAbortion, SpontaneousAdultAmniocentesisCleft PalateEctodermal DysplasiaEye AbnormalitiesFemaleFoot Deformities, CongenitalGenes, DominantHumansInfant, NewbornKidneyMalePregnancy

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8737656

Citation

Moerman, P, and J P. Fryns. "Ectodermal Dysplasia, Rapp-Hodgkin Type in a Mother and Severe Ectrodactyly-ectodermal Dysplasia-clefting Syndrome (EEC) in Her Child." American Journal of Medical Genetics, vol. 63, no. 3, 1996, pp. 479-81.
Moerman P, Fryns JP. Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. Am J Med Genet. 1996;63(3):479-81.
Moerman, P., & Fryns, J. P. (1996). Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. American Journal of Medical Genetics, 63(3), 479-81.
Moerman P, Fryns JP. Ectodermal Dysplasia, Rapp-Hodgkin Type in a Mother and Severe Ectrodactyly-ectodermal Dysplasia-clefting Syndrome (EEC) in Her Child. Am J Med Genet. 1996 Jun 14;63(3):479-81. PubMed PMID: 8737656.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. AU - Moerman,P, AU - Fryns,J P, PY - 1996/6/14/pubmed PY - 2000/6/20/medline PY - 1996/6/14/entrez SP - 479 EP - 81 JF - American journal of medical genetics JO - Am J Med Genet VL - 63 IS - 3 N2 - We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with ectrodactyly, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome. This observation suggests that the Rapp-Hodgkin type of ectodermal dysplasia and EEC syndrome, both defined as autosomal dominant conditions with variable expression, may be manifestations of the same mutated gene. We also want to emphasize that urogenital anomaly is another hallmark of the EEC syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8737656/Ectodermal_dysplasia_Rapp_Hodgkin_type_in_a_mother_and_severe_ectrodactyly_ectodermal_dysplasia_clefting_syndrome__EEC__in_her_child_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=63&issue=3&spage=479 DB - PRIME DP - Unbound Medicine ER -