Über Spalthand und -Fuss mit Oligodaktylie

Kellner, Angelika

doi:10.1007/bf01782428

Cited by 2 publications

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“…Both isolated and familial instances with various combinations of only two components of the EEC syndrome have been reported. Sporadic cases of lobster-claw deformity and CL(P) were reported by Kellner (1934), Fuss (1935), Birchdensen (1949, Schonenberg (1955), Hillman & Frazer (1969) and Berndorfer (1970). Familial instances of this same combination of anomalies were observed by Kompe (1903), Ahrens (1967) and Jaworska & Popiolek (1968).…”

Section: Dlscussionmentioning

confidence: 99%

Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome):Report of a family and review of the literature

Rosemann¹,

Shapira

Cohen³

1976

Clinical Genetics

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A family is described in which a father and son are affected with ectrodactyly, ectodermal dysplasia and cleft palate. This particular constellation of major malformations may constitute a variant form of the EEC syndrome which characteristically includes cleft lip with or without cleft palate. From a review of the cases previously reported in the literature, autosomal dominant inheritance is the most likely mode of transmission of these conditions.

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Section: Dlscussionmentioning

confidence: 99%

Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome):Report of a family and review of the literature

Rosemann¹,

Shapira

Cohen³

1976

Clinical Genetics

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The ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome

et al. 1972

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A search of the literature over the past 150 years reveals 19 proband cases of lobster claw deformity of the extremities and clefting of the primary and secondary palate. Some authors have reported that a few of these cases also have an atypical form of ectodermal dysplasia in which the skin is fair and the hair fine and light colored, and a tooth enamel dysplasia but normal salivary, sweat, and sebaceous gland function. Atresia of the lacrimal puncta may also be a part of this syndrome which has been designated the ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome. This report describes two unrelated females who appear to have the EEC syndrome, thereby bringing the total probable cases to five, two of which occurred in affected families (Walker & Clodius 1963, Cockayne 1936) and three of which were sporadic (Rudiger et al. 1970, this report). Dominant inheritance with incomplete penetrance is suggested.

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Über Spalthand und -Fuss mit Oligodaktylie

Cited by 2 publications

References 0 publications

Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome):Report of a family and review of the literature

Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome):Report of a family and review of the literature

The ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome

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