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At least 1,639 records · Page 91Linked to original sources
PubMed1995

Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome.

In this report we document the concurrence of a large omphalocoele and anal atresia in a female newborn with EEC syndrome (Ectodermal dysplasia-Ectrodactyly-Cleft palate). Up to now, the association anal atresia-EEC syndrome has been noted in 4 other unpublished patients indicating that anal atresia may constitute another true manifestation of this autosomal dominant syndrome with variable expression.

Anus, Imperforate↗
PubMed1992

Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome?

Aplasia cutis congenita (ACC) is a skin disorder in which localized or widespread areas of skin are absent at birth. It has been associated with numerous anomalies and recognizable syndromes. We report a newborn infant with ACC of the scalp, multiple facial abnormalities including cleft palate but not cleft lip, hypoplasia of the distal phalanges of the hands, ectrodactyly of the feet, and epidermolysis bullosa of the extremities and lower trunk. Although this patient had some features that overlapped with ectrodactyly-ectodermal dysplasia-clefting syndrome, the absence of cleft lip and presence of additional skin abnormalities made that diagnosis unlikely. This could represent a newly recognized syndrome of numerous malformations in which ACC is associated with a constellation of previously undescribed structural anomalies.

Abnormalities, Multiple↗
PubMed2003

EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.

Lines of evidence have recently indicated a relationship between mutations in the P63 gene and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome type 3 (EEC3). The p63 gene (P63) has homology to P53 known as a tumor-suppressor gene, but biological function of its protein has not yet been known well. There have been two reported patients who had EEC syndrome associated with malignant lymphoma. However, they did not undergo sequencing analysis of P63. Here, we present with a Japanese girl who had EEC3 and developed diffuse large B-cell type non-Hodgkin lymphoma. In this patient, we documented a heterozygous germline mutation, Asp312Gly, in P63. We speculated that p63 may exert a biological function as a tumor suppressor. Malignant lymphoma should be considered as an important complication of EEC3.

Adolescent↗