Bamforth syndrome: is porencephaly a new finding?
G Sandal1, O Pirgon2, A R Ormeci2
1Süleyman Demirel University Medical School, Pediatrics Department, Isparta, Turkey. kocabasgonca@mynet.com
Genetic Counseling (Geneva, Switzerland)
|December 18, 2013
Summary
Bamforth syndrome is a rare inherited disorder affecting newborns. This report details the first documented case of Bamforth syndrome with porencephaly, expanding our understanding of this condition.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Bamforth syndrome is a rare inherited disorder characterized by congenital hypothyroidism, cleft palate, and spiky hair.
- It is caused by mutations in the thyroid transcription factor 2 (TTF-2) gene.
- The condition can also present with choanal atresia and bifid epiglottis.
Observation:
- A newborn presented with facial dysmorphism, cleft palate, spiky hair, and congenital hypothyroidism, consistent with Bamforth syndrome.
- This case is notable for the additional presence of porencephaly.
Findings:
- This is the first reported instance of Bamforth syndrome co-occurring with porencephaly.
- The genetic basis of Bamforth syndrome involves mutations in the TTF-2 gene, crucial for thyroid development.
Implications:
- This finding expands the known clinical spectrum of Bamforth syndrome.
- Further research is needed to understand the relationship between TTF-2 mutations and neurological abnormalities like porencephaly.
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