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SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo - 1 Jan 2000

Rosa Rafael Fabiano Machado, Moraes Samir Abou Ghaouche de, Sulczinski Leonardo Paludo, Silva Filipe Augusto da, Milner Olga Gaio, Pires Silvana Rodrigues Streit, Artigalas Osvaldo Alfonso Pinto, Rosa Rosana Cardoso Manique, Zen Paulo Ricardo Gazzola

Abstract excerpt

OBJECTIVE: EEC is an acronym for an autosomal dominant syndrome clinically characterized by ectrodactyly (E), ectodermal dysplasia (E) and cleft lip/palate (C). Our aim was to describe a rare case of siblings affected by ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome presenting normal parents. CASE DESCRIPTION: The patient was the third son of young and healthy parents. The parents did not...

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Identifiers

PMID: 28977327
DOI: 10.1590/1984-0462/;2017;35;2;00017
PMCID: PMC5496721

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Source receipt: pubmed, retrieved 7 Sept 2026.

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SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?PMID 28977327Read ↗

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