Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report
We report a case of acrocephalosyndactyly, Pfeiffer syndrome type 1 with a mutation in FGFR2 c.758C>G (p.Ser253Trp) in a newborn with mild midfacial hypoplasia, significant brachydactyly and syndactyly in the hands and feet. One of the hallmark features of Pfeiffer syndrome is webbing or fusion (...
Saved in:
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2025-07-01
|
| Series: | Clinical Medicine Insights: Case Reports |
| Online Access: | https://doi.org/10.1177/11795476251353333 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|