| Autor: |
Jith G; Department of Burns & Plastic Surgery, AIIMS, Bhubaneswar, Orissa, India., Suba S; Department of Burns & Plastic Surgery, AIIMS, Bhubaneswar, Orissa, India., Giri SK; Department of Burns & Plastic Surgery, AIIMS, Bhubaneswar, Orissa, India. |
| Jazyk: |
angličtina |
| Zdroj: |
The journal of hand surgery Asian-Pacific volume [J Hand Surg Asian Pac Vol] 2024 Jun; Vol. 29 (3), pp. 248-251. Date of Electronic Publication: 2024 May 10. |
| DOI: |
10.1142/S242483552472007X |
| Abstrakt: |
Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is an exceedingly rare condition associated with mutations in the PVL4 gene. It is characterised by sparse, brittle hair, eyebrows and eyelashes, abnormal dentition and nails, along with bilateral cutaneous syndactyly involving the fingers and toes. We report a 2-year-old girl who presented to us with bilateral complete simple syndactyly of the third and fourth web spaces of the hands, along with bilateral syndactyly of both feet involving the second to fourth toes. Upon examination, sparse hair and eyebrows, along with abnormal dentition, were noted. Thorough clinical examination and genetic analysis were conducted on the affected child and her father, who exhibited similar clinical features. Genetic analysis revealed a homozygous nonsense mutation in the PVL4 gene in both individuals. According to the literature, EDSS1 has been reported in only 10 families worldwide, and there are no reported cases from India. Level of Evidence: Level V (Therapeutic). |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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