Hartsfield syndrome
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(Hartsfield-Bixler-Demyer syndrome)
Very rare. Autosomal dominant or recessive transmission of a mutation of gene FGFR1 (8p11.23).
Association of
- holoprosoencephaly (see this term) with facial dysmorphism: hypertelorism, bilateral epicanthus , nasal cleft, retrognathism, single incisor; risk of diabete insipidus, hypothyroidism, hypogonadotrophic hypogonadism .
- ectrodactyly (hands and feet)
- and bilateral labiopalatine cleft
and often anomalies of the ears: cup-shaped low-set ears, preauricular appendices.
Anesthetic implications:
substitutive opotherapy (thyroid hormones and cortisone); echocardiography; check blood electrolytes (risk of decompensation of a diabetes insipidus); difficult mask ventilation and intubation
References :
Updated: July 2017