[MIM 602 849]

Very rare (approximately 1/30,000 births). Craniosynostosis of genetic origin: autosomal dominant transmission of a mutation of the FGFR3 gene (4p16.3.) . Results in a premature, uni - or bilateral, fusion of the coronal sutures: the clinical manifestations are highly variable.
Clinical picture:

-        brachycephaly

-        turribrachycephaly

-        anterior plagiocephaly

-        macrocephaly with hypoplasia of the maxilla and deepening of the orbit on the affected side.

Often associated: hypertelorism, ptosis, a high arched palate, hypoplasia of the lower half of the face. The phenotype is generally more severe in girls.

The following may also be associated: deafness (30 %), developmental retardation (20 %), short stature and orthopedic abnormalities of the limbs: fusion of the bones of the carpus and tarsus, thimble-shaped intermediate phalanges, cone-shaped epiphyses. These children carry a high risk of postoperative intracranial hypertension after craniosynostosis repair.

Anesthetic implications:

major anesthetic risk. Preoperative echocardiography. Difficult intubation and ventilation. C1 - C2 instability. Obstructive apnea: a nasopharyngeal airway is often more effective than an oropharyngeal one. Mitral or aortic anomalies.

References : 

Updated: December 2018