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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.

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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.