- MeSH
- Coloboma * etiology therapy MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Eyelids * abnormalities MeSH
- Prognosis MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Review MeSH
- MeSH
- Diagnosis, Differential MeSH
- Hemangioma, Capillary * diagnosis drug therapy pathology congenital MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Eyelids * abnormalities MeSH
- Propranolol therapeutic use MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Review MeSH
- MeSH
- Eye Abnormalities surgery etiology classification pathology therapy MeSH
- Blepharitis etiology physiopathology pathology therapy MeSH
- Blepharoptosis surgery etiology classification pathology therapy MeSH
- Child MeSH
- Coloboma etiology pathology MeSH
- Humans MeSH
- Eyelid Neoplasms etiology classification pathology therapy MeSH
- Eyelid Diseases * surgery etiology classification pathology therapy congenital MeSH
- Lacrimal Apparatus Diseases * diagnosis classification physiopathology pathology therapy MeSH
- Eyelids abnormalities anatomy & histology physiology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Review MeSH
INTRODUCTION: Ankyloblepharon filiforme adnatum associated with Hay-Wells syndrome is a rare congenital disease caused by mutations in TP63 gene on the 3q27 chromosome. Here, we report a case of a new-born suffering from this syndrome in whom we detected a mutation c.1709T>C not previously included in the Ensemble database. CASE DESCRIPTION: A girl delivered in the 34th week of gestation from a physiological pregnancy was born with extensive burn-like skin defects, ankyloblepharon filiforme adnatum, palate cleft, onychodystrophy of all limbs and syndactyly of toes. Hay-Wells syndrome was suspected and confirmed by genetic examination. A heterozygous missense change c.1709T>C was found in the TP63 gene. This variant leads to a 570th codon exchange of leucine for proline (p.Leu570Pro) on the protein level. The eyelid separation was performed surgically, burns were treated locally and cosmetic surgeries correcting other defects are planned for the near future. The girl is still monitored by a multidisciplinary team. CONCLUSIONS: The mutation was not previously described in the literature or databases and should be included into these as probably pathogenic. A multidisciplinary approach is necessary to care for a patient with Hay-Wells syndrome, such care however can provide good results.
- MeSH
- Eye Abnormalities diagnosis genetics surgery MeSH
- Ectodermal Dysplasia diagnosis genetics surgery MeSH
- Genetic Testing MeSH
- Gestational Age MeSH
- Heterozygote MeSH
- Humans MeSH
- Mutation, Missense genetics MeSH
- Young Adult MeSH
- Tumor Suppressor Proteins genetics MeSH
- Infant, Newborn MeSH
- Eyelids abnormalities surgery MeSH
- Ophthalmologic Surgical Procedures MeSH
- Cleft Palate diagnosis genetics surgery MeSH
- Cleft Lip diagnosis genetics surgery MeSH
- Transcription Factors genetics MeSH
- Check Tag
- Humans MeSH
- Young Adult MeSH
- Infant, Newborn MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
Clinics in plastic surgery ; vol. 20 no.2
IX, 429 s. : fotogr., obr. ; 26 cm
- MeSH
- Orbital Diseases surgery MeSH
- Eyelids abnormalities MeSH
- Orbit surgery MeSH
- Surgery, Plastic methods MeSH
- Publication type
- Collected Work MeSH
- Conspectus
- Ortopedie. Chirurgie. Oftalmologie
- NML Fields
- chirurgie
- oftalmologie
