Journal ArticleDOI
Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.
TLDR
It is proposed that this combination of defects represents a specific syndrome of congenital defects, named the EEC syndrome according to its main manifestations, which is described in a 3½-year-old girl.Abstract:
The association of ectrodactyly, atypical anhidrotic ectodermal dysplasia, and cleft lip and cleft palate is described in a 3½-year-old girl. It is proposed that this combination of defects represents a specific syndrome of congenital defects, named the EEC syndrome according to its main manifestations.read more
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Journal ArticleDOI
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
Michael J. Bamshad,R C Lin,D. J. Law,W C Watkins,P. A. Krakowiak,M. E. Moore,P. Franceschini,R. Lala,L. B. Holmes,T. C. Gebuhr,Benoit G. Bruneau,A Schinzel,Jonathan G. Seidman,Christine E. Seidman,Lynn B. Jorde +14 more
TL;DR: It is demonstrated that mutations in human T8X3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families and suggested that during the evolution of TBX3 and TBX5 from a common ancestral gene, each has acquired specific yet complementary roles in patterning the mammalian upper limb.
Journal ArticleDOI
The p63 gene in EEC and other syndromes.
TL;DR: The p63 syndrome family includes the EEC Syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic split hand/foot malformation, and the pattern of heterozygous mutations is distinct for each of these syndromes.
Journal ArticleDOI
The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition
Roderick J. Hay,R.S. Wells +1 more
TL;DR: Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate, and the relationship between this and similar syndromes is discussed.
Journal ArticleDOI
P63 gene mutations and human developmental syndromes.
TL;DR: Consistent with this syndrome-specific mutational pattern, the functional consequences of mutations on the p63 proteins also vary, invoking dominant-negative and gain-of-function mechanisms rather than a simple loss of function.
Journal ArticleDOI
Twenty-four cases of the EEC syndrome: clinical presentation and management.
TL;DR: Developmentally, the EEC syndrome and related disorders represent disorders of ectodermal/mesodermal interaction and candidate regions include 7q21.3, the "ectrodactyly" locus; other candidates include developmental genes implicated in the ectodermetrics interactive process.
References
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Journal ArticleDOI
Hereditary ectodermal dysplasia (congenital ectodermal defect): a report of two cases
TL;DR: In the patients whose cases are to be reported in this paper the paucity of scalp hair, eyebrows and eyelashes, the prominence of the brow and the defects in the development of the teeth were so strikingly similar that one would not hesitate in supposing the cause of the anomalies to be the same in both children.
Journal ArticleDOI
Malformations Caused by Drugs in Pregnancy
TL;DR: A connection between quinine intake for artificial abortion and malformations has been assumed in selected cases, however, no unbiased study is available.
Journal ArticleDOI
Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.
R S Rapp,W E Hodgkin +1 more
TL;DR: Ectodermal dysplasia involves faulty develop- ment of embryonic ectoderm and itssequent derivatives and its subsequent derivatives.
Journal ArticleDOI
The syndromes of cleft lip, cleft palate and lobster-claw deformities of hands and feet.
John C. Walker,Leo Clodius +1 more
Related Papers (5)
The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature.
The syndromes of cleft lip, cleft palate and lobster-claw deformities of hands and feet.
John C. Walker,Leo Clodius +1 more