Tags

Type your tag names separated by a space and hit enter

Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis.
Clin Genet. 1991 Oct; 40(4):257-62.CG

Abstract

Six patients with the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, namely five members of the same family and one sporadic case, are presented. One of the main features of the EEC syndrome, ectrodactyly, was missing in five of the patients. The diagnosis did not become clear until the youngest son of the family was born. All of our six patients had a low birth weight and some were born preterm, and four had poly- and/or syndactyly without ectrodactyly. A low birth weight and polysyndactyly have been reported previously in patients with the EEC syndrome and might be features of the syndrome. The present patients illustrate the great phenotypic variability in the EEC syndrome and the need for a careful search for microsymptoms in potential gene-carriers. In two members of the affected family, EEC syndrome was diagnosed prenatally after 16 weeks of gestation by detection of the cleft lip and palate on ultrasound examination. The mother chose to continue the pregnancies. However, prenatal diagnosis of cleft lip and palate might be of value in genetic counselling for other inherited syndromes leading to severe disability.

Authors+Show Affiliations

Department of Clinical Genetics, University Hospital, Uppsala, Sweden.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1756598

Citation

Annerén, G, et al. "Ectrodactyly-ectodermal Dysplasia-clefting Syndrome (EEC): the Clinical Variation and Prenatal Diagnosis." Clinical Genetics, vol. 40, no. 4, 1991, pp. 257-62.
Annerén G, Andersson T, Lindgren PG, et al. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. Clin Genet. 1991;40(4):257-62.
Annerén, G., Andersson, T., Lindgren, P. G., & Kjartansson, S. (1991). Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. Clinical Genetics, 40(4), 257-62.
Annerén G, et al. Ectrodactyly-ectodermal Dysplasia-clefting Syndrome (EEC): the Clinical Variation and Prenatal Diagnosis. Clin Genet. 1991;40(4):257-62. PubMed PMID: 1756598.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. AU - Annerén,G, AU - Andersson,T, AU - Lindgren,P G, AU - Kjartansson,S, PY - 1991/10/1/pubmed PY - 1991/10/1/medline PY - 1991/10/1/entrez SP - 257 EP - 62 JF - Clinical genetics JO - Clin Genet VL - 40 IS - 4 N2 - Six patients with the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, namely five members of the same family and one sporadic case, are presented. One of the main features of the EEC syndrome, ectrodactyly, was missing in five of the patients. The diagnosis did not become clear until the youngest son of the family was born. All of our six patients had a low birth weight and some were born preterm, and four had poly- and/or syndactyly without ectrodactyly. A low birth weight and polysyndactyly have been reported previously in patients with the EEC syndrome and might be features of the syndrome. The present patients illustrate the great phenotypic variability in the EEC syndrome and the need for a careful search for microsymptoms in potential gene-carriers. In two members of the affected family, EEC syndrome was diagnosed prenatally after 16 weeks of gestation by detection of the cleft lip and palate on ultrasound examination. The mother chose to continue the pregnancies. However, prenatal diagnosis of cleft lip and palate might be of value in genetic counselling for other inherited syndromes leading to severe disability. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/1756598/Ectrodactyly_ectodermal_dysplasia_clefting_syndrome__EEC_:_the_clinical_variation_and_prenatal_diagnosis_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1991&volume=40&issue=4&spage=257 DB - PRIME DP - Unbound Medicine ER -