Ectrodactyly, ectodermal dysplasia, cleft lip and palate (EEC)—a rare syndrome

1983 ◽  
Vol 50 (3) ◽  
pp. 337-340 ◽  
Author(s):  
H. Parkash ◽  
M. S. Grewal ◽  
S. S. Sidhu
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ectodermal Dysplasia ◽  
Rare Syndrome

scholarly journals Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

2015 ◽  
Vol 3 ◽  
Author(s):  
Deepak Sharma ◽  
Chetan Kumar ◽  
Sanjay Bhalerao ◽  
Aakash Pandita ◽  
Sweta Shastri ◽  
...  
Keyword(s):  
Tetralogy Of Fallot ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ectodermal Dysplasia ◽  
Rare Combination ◽  
Eec Syndrome

Cleft Lip and Palate in Ectodermal Dysplasia

2020 ◽  
pp. 105566562094912
Author(s):  
Ingrid M. Ganske ◽  
Tim Irwin ◽  
Olivia Langa ◽  
Joseph Upton ◽  
Wen-Hann Tan ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ectodermal Dysplasia ◽  
Phenotypic Expression ◽  
Velopharyngeal Insufficiency ◽  
Pathogenic Variants ◽  
Orofacial Clefting ◽  
Outcomes Measures ◽  
Cleft Lip Palate ◽  
Dentofacial Orthopedics

Objective: Ectodermal dysplasia (ED) comprises multiple syndromes that affect skin, hair, nails, and teeth, and sometimes are associated with orofacial clefting. The purpose of this study is to (1) identify the prevalence and characteristics of cleft lip and/or palate (CL/P) in patients with ED and (2) describe the management and outcomes. Design: Retrospective review from 1990 to 2019. Patients: All patients with ED treated at Boston Children's Hospital. Main Outcomes Measures: Prevalence of CL/P was calculated and clinical details recorded: phenotypic anomalies, cleft type, operative treatment, and results of repair. Results: Of 170 patients with a purported diagnosis of ED, 24 (14%) had CL/P. Anatomic categories were bilateral CL/P (67%), unilateral CL/P (8%), and cleft palate only (25%). The most common ED syndrome (37%) was ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC). Pathogenic variants in TP63 were the most frequent finding in the 11 patients who had genetic testing. Aberrations from a typical clinical course included failure of presurgical dentofacial orthopedics, dehiscence of nasolabial adhesion, and total palatal absence requiring free-flap construction. Two patients had prolonged postoperative admission for respiratory infection. High fistula (8%) and velopharyngeal insufficiency (33%) rates reflected the predominance of bilateral complete forms. Conclusions: As in other types of syndromic CL/P, cleft phenotypic expression in ED is more severe than the general cleft population. Further studies are needed to correlate genotype and phenotype for the distinct syndromes included in the ED spectrum.

Corneal changes in ectrodactyly–ectodermal dysplasia–cleft lip and palate syndrome: case series and literature review

2012 ◽  
Vol 32 (5) ◽  
pp. 475-480 ◽  
Author(s):  
Anthony F. Felipe ◽  
Azin Abazari ◽  
Kristin M. Hammersmith ◽  
Christopher J. Rapuano ◽  
Parveen K. Nagra ◽  
...  
Keyword(s):  
Literature Review ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ectodermal Dysplasia ◽  
Case Series

Ankyloblepharon, Ectodermal Dysplasia, Cleft Lip and Palate (AEC) Syndrome

1994 ◽  
Vol 93 (3) ◽  
pp. 590-594 ◽  
Author(s):  
Kaneshige Satoh ◽  
Yasuaki Tosa ◽  
Sumimasa Ohtsuka ◽  
Takuya Onizuka
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ectodermal Dysplasia
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