Carpenter, syndrome
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(Acrocephalopolysyndactyly type II)
Very rare. Acrocephalopolysyndactyly. Autosomal recessive transmission of a mutation of the RAB23 gene (6p12.1-q12) combining:
- craniosynostosis, acrocephaly; midface hypoplasia
- brachydactyly, syndactyly of the hands and feet, preaxial polydactyly;
- cardiac malformation
- retention of primary teeth
- in the older child: hypogenitalism and obesity, mental retardation.
Anesthetic implications:
difficult intubation, possibly increased intracranial pressure; obesity; congenital heart disease
References :
- Yatindra KB, Subramanyam R, Srinivas N, Grover G.
Anesthetic implications of Carpenter syndrome (acrocephalosyndactyly type II).
Pediatr Anesth 2008; 18: 1235-7.
- Bhardwaj M, Grange C.
Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot.
Int J Obstet Anesth 2013; 22: 251-4.
Updated: November 2019