Article
A newborn with overlapping features of AEC and EEC syndromes.
American journal of medical genetics. Part A - 1 Dec 2011
Celik Tolga Hasan, Buyukcam Ayse, Simsek-Kiper Pelin Ozlem, Utine Gulen Eda, Ersoy-Evans Sibel, Korkmaz Ayse, Yntema Helger G, Bodugroglu Koray, Yurdakok Murat
Abstract excerpt
Ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS), ADULT syndrome, and others. All these disorders include combinations of ectodermal dysplasia, orofacial clefting and limb malformations in variable severity. A newborn patient...
Topics
- Amino Acid Substitution
- Cleft Lip
- Cleft Palate
- Ectodermal Dysplasia
- Eye Abnormalities
- Eyelids
- Fatal Outcome
- Female
- Humans
- Infant, Newborn
- Mutation
- Phenotype
- Transcription Factors
- Tumor Suppressor Proteins