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Neonatal Med > Volume 24(4); 2017 > Article
Neonatal Medicine 2017;24(4):192-196.
DOI: https://doi.org/10.5385/nm.2017.24.4.192    Published online November 30, 2017.
A Case of Ankyloblepharon-Ectodermal Defect-Cleft Lip and/or Palate (AEC) Syndrome with Missense Mutation in TP63 1657(th).
Young Sun Kim, Tae Ho Hwang, Su Jin Park, Hae Jung Lee, Sung Hoon Kim, Chul Hong Kim, Jun Hwa Lee, Ju Suk Lee, Seoheui Choi
1Department of Pediatrics, Sungkyunkwan University School of Medicine, Samsung Changwon Hospital, Changwon, Korea.
2Department of Pediatrics, National Medical Center, Seoul, Korea. taurus.choi@gmail.com
Abstract
Ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia. It is caused by mutations in p63 gene. Six isoforms are generated from the TP63 gene mutation and the main isoform expressed in postnatal skin is Np63a, which functions as a key regulator of epidermal integrity. We have experienced a 1-day-old female baby with skin erosions, ankyloblepharosis, and cleft palate that require treatment for skin care and feeding difficulties. Missense mutation in TP63 1657(th) T → A transition was found in the genetic test performed in the patient, and this genotype has not been reported in a previously variant. The patient was found dead at 91days of birth and the cause of death was estimated by aspiration.
Key Words: Hay-Wells syndrome, Cleft palate, Ectodermal dysplasia
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