Alazami syndrome
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(Alazami-type primordial microcephalic dwarfism)
Incidence: < 1/106. Autosomal recessive transmission of a loss-of-function-type mutation of the LARP7 gene (4q25) coding for a chaperone protein for a non-coding RNA.
Association of:
Anesthetic implications:
short stature; echocardiography; behavioral disorders
References :
- Imbert-Bouteille M, Trau Mau Them F, Thevenon J, Guignard T, Gatinois V et al.
LARP7 variants and further delineation of the Alazami syndrome phenotype among primordial dwarfisms : two sisters.
Eur J Med Genet 2019 ; 62 :161-6.
- Alzahrani MS, Bird LM.
Alazami syndrome in an Afghani girl : a case report and review of literature.
Global J Rare Diseases 2019 ; 4 : 3-6.
Updated: January 2021