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Literature DB >> 2240042

EEC syndrome: report on 20 new patients, clinical and genetic considerations.

Abstract

We report on 20 Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC syndrome). Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed.

Entities: Disease Species

Mesh：

Year: 1990 PMID： 2240042 DOI： 10.1002/ajmg.1320370112

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

15 in total

Review 1. The p63 gene in EEC and other syndromes.

Authors: H G Brunner; B C J Hamel; H Van Bokhoven
Journal: J Med Genet Date: 2002-06 Impact factor: 6.318

2. Mega cisterna magna in ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

Authors: Rajoo Thapa; Debkrishna Mallick; Biswajit Biswas; Apurba Ghosh
Journal: Indian J Pediatr Date: 2010-06 Impact factor: 1.967

3. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Authors: H van Bokhoven; M Jung; A P Smits; S van Beersum; F Rüschendorf; M van Steensel; M Veenstra; J H Tuerlings; E C Mariman; H G Brunner; T F Wienker; A Reis; H H Ropers; B C Hamel
Journal: Am J Hum Genet Date: 1999-02 Impact factor: 11.025

4. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

Authors: H van Bokhoven; B C Hamel; M Bamshad; E Sangiorgi; F Gurrieri; P H Duijf; K R Vanmolkot; E van Beusekom; S E van Beersum; J Celli; G F Merkx; R Tenconi; J P Fryns; A Verloes; R A Newbury-Ecob; A Raas-Rotschild; F Majewski; F A Beemer; A Janecke; D Chitayat; G Crisponi; H Kayserili; J R Yates; G Neri; H G Brunner
Journal: Am J Hum Genet Date: 2001-07-17 Impact factor: 11.025

5. Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

Authors: D Soekarman; J P Fryns
Journal: J Med Genet Date: 1993-03 Impact factor: 6.318

Review 10. Acro-cardio-facial syndrome.

Authors: Maria Cristina Digilio; Bruno Dallapiccola
Journal: Orphanet J Rare Dis Date: 2010-09-29 Impact factor: 4.123

EEC syndrome: report on 20 new patients, clinical and genetic considerations.

Review 1. The p63 gene in EEC and other syndromes.

2. Mega cisterna magna in ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

3. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

4. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

5. Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

6. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

7. Syndactyly, ectodermal dysplasia, and cleft lip/palate.

8. Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.

9. Non-traumatic causes of perianal hemorrhage and excoriation in the young.

Review 10. Acro-cardio-facial syndrome.