Bamforth syndrome: is porencephaly a new finding?

Abstract

Bamforth syndrome is a rare inherited condition whose main features are congenital hypothyroidism due to thyroid dysplasia, cleft palate, and spiky hair, with or without choanal atresia and bifid epiglottis. This syndrome is caused by mutations in the gene encoding thyroid transcription factor 2 (TTF-2). Here we report on a newborn with facial dysmorphism, cleft palate, spiky hair, congenital hypothyroidism and that are observed with Bamforth syndrome. This is the first case with Bamforth syndrome in which porencephaly has been observed.

• Authors: G Sandal, O Pirgon, A R Ormeci
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 24 Issue 3 Pg. 279-82 ( 2013) ISSN: 1015-8146 [Print] Switzerland
• PMID: 24341142 (Publication Type: Case Reports, Journal Article)

Chemical References

• Collagen Type IV

Topics

• Abnormalities, Multiple (diagnosis)
• Brain (pathology)
• Brain Diseases (diagnosis, etiology)
• Cleft Palate (complications, diagnosis)
• Collagen Type IV (deficiency)
• Consanguinity
• Hair Diseases (complications, diagnosis)
• Hemiplegia (diagnosis, etiology)
• Humans
• Hypothyroidism (complications, diagnosis)
• Infant, Newborn
• Magnetic Resonance Imaging (methods)
• Male
• Physical Examination (methods)
• Porencephaly