Lujan-Fryns, syndrome
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X-linked recessive transmission of a mutation of the MED12 gene (Xq13.1). Particular form of X-linked mental retardation associated with a marfanoid habitus status. A few cases caused by the mutation of the UPF3B (Xq25-q26) or ZDHHC9 (Xq26.1) gene have been described, as well as a few cases in girls.
Association of:
- global developmental retardation
- tall stature with marfanoid appearance that becomes more apparent at the time of puberty
- facial dysmorphism: macrocephaly, bossing forehead, elongated facies, high arched palate, maxillary hypoplasia and small mandible, nasal voice, short and deep philtrum, low set ears, double row of teeth
- cardiac malformation: mitral regurgitation, ASD, VSD, dilated ascending aorta
- pectus excavatum or carinatum
- joint hyperlaxity evolving later to spasticity and contractures
- larger than normal testicles
- agenesis of the corpus callosum
- behavioural disorders: autistic disorders, hyperactivity with attention deficit, aggressivity.
Anesthetic implications:
cardiac and aortic echography; communication difficulties; risk of difficult intubation
References :
- Faivre L, Boileau C, Jondeau G.
Syndromes marfanoïdes
In Syndromes dysmorphiques, Lacombe D, Philip N, Doin 2013, pp. 106-7
- Lujan-Fryns syndrome. OrphanAnesthesia
Updated: August 2020