Title: Anal atresia and abdominal wall defect as unusual symptoms in EEC syndrome
Authors: De Smet, Luc ×
Fryns, Jean-Pierre #
Issue Date: Jan-1995
Series Title: Genetic Counseling vol:6 issue:2 pages:127-30
Abstract: 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 Up to now, the association anal atresia-EEC syndrome has been noted in 4 other unpublished patients indicating that anal atresia may constitute another true manifestation of this autosomal dominant syndrome with variable expression.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group for Musculoskeletal Rehabilitation
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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