Greig syndrome
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(cephalopolysyndactyly)
Prevalence: < 1/106. Autosomal dominant transmission of a mutation of the GLI3 gene (7p14.1). Other mutations of the same gene produce the Pallister Hall syndrome.
Association of:
- macrocephaly (PC > P 97): prominent frontal bossing
- hypertelorism
- pre-axial (feet) and postaxial (hands) polysyndactyly
- sometimes: cognitive disorders, epilepsy, and cerebral anomalies (hydrocephalus), cleft palate, craniosynostosis
Anesthetic implications:
check for possible hydrocephalus or epilepsy
References :
- Biesecker LG.
The Greig cephalopolysyndactyly syndrome.
Orphanet J Rare Diseases 2008 ; 3 :10 doi 10.1186/1750-1172-3-10
- Odent S, Mercier S, Quélin C, Lacombe D.
Altérations de la voie de signalisation Sonic Hedgehog et anomalies du développement : « hedgehogopathies »,
In Syndromes dysmorphiques, D Lacombe et N Philip, Série Progrès en Pédiatrie n°35, Doin 2013, p 27-39
Updated: January 2017