[MIM 241 850]

(Bamforth-Lazarus syndrome)

Mutation of the TTF2 (Thyroid Transcription Factor 2) or of the FOXE1 gene (9q.22-33), (another thyroid transcription factor). Association of a cleft palate, choanal atresia, straight hair and sometimes a bifid epiglottis, with congenital hypothyroidism.

Anesthetic implications:

Check for euthyroidism; possible difficult intubation; a case of associated pseudocholinesterase deficiency

References : 

-        Yildiz TS, Solak M, Baris I, Toker K. 
Unexpected prolonged paralysis after mivacurium in a patient with Bamforth syndrome. 
Pediatr Anesth 2006; 16: 892-4.

Updated: November 2019