Myhre syndrome
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Very rare. Autosomal dominant or X-linked transmission of a mutation of the SMAD4 gene which results in a decrease of the genes targeting the TGFß in fibroblasts; this produces an almost reverse phenotype to Marfan syndrome. The LAPS syndrome is a phenotypic variant of the same mutation.
Association of:
- short stature with marked muscular hypertrophy (stocky appearance)
- reduction of joint mobility, thick skin
- facial dysmorphism: short palpebral fissures, thin lips, short philtrum, maxillary hypoplasia and prognathism
- platyspondyly with gradual appearance of a narrow vertebral canal
- progressive hearing loss
- variable intellectual deficit
- significant risk of laryngotracheal stenosis after intubation
- sometimes: trails of thick and yellowish skin following the lines of Blashko at the level of the forehead and the posterior part of the neck
Anesthetic implications:
no case report; short stature, risk of difficult intubation due to maxillary hypoplasia
References :
- Burglen L, Héron D, Moerman A, Dieux-Coeslier A et al.
Myhre syndrome : new reports, review and differential diagnosis.
J Med Genet 2003; 40: 546-51.
- McGowan R, Gulati R, McHenery P, Cooke A, Butler S et al.
Clinical features and respiratory complications in Myhre syndrome.
Eur J Med Genet 2011 ; 54 : e 553-9.
- Oldenburg MS, Frisch CD, Lindor NM, Edell ES, Kasperbauer JL, O’Brien EK.
Myhre-LAPs syndrome and intubation related airway stenosis : keys to diagnosis and critical therapeutic interventions.
Am J Otolaryngol Head Neck Medic & Surg 2015 ; 36 : 636-41
Updated: June 2017