Braegger, syndrome
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(ICF1 syndrome)
Very rare. Autosomal recessive transmission of a mutation of the DNMT3B gene (20q11.21).
This mutation results in a deficiency in immunoglobulins (mainly IgG and IgA) and a centromeric instability of the chromosomes 1, 9 and 16 , rarely 2: this instability leads to somatic recombination of the arms of these chromosomes.
One can observe:
- frequent infections, especially cutaneous and respiratory (bronchiectasies)
- facial dysmorphism: hypertelorism, low set ears, protrusion of the tongue, epicanthus, sometimes micrognathia
- renal dysfunction: nephrotic syndrome
- hypoplasia of the ischium and polydactyly (osteochondrodystroplasia)
- hearing disorders
- hypoplasia of external genitalia
Anesthetic implications:
monitor renal function; antibioprophylaxis and strict application for the rules of asepsis, risk of difficult intubation
References :
Updated: November 2019