Miller, syndrome
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(Postaxial acrofacial dysostosis, Genee-Wiedemann syndrome, Wildervanck-Smith syndrome)
Rare. Autosomal recessive transmission of a mutation in the DHODH gene on 16q 22.
Association of
- facial abnormalities similar to Treacher-Collins syndrome or Franceschetti syndrome (see this topic): bilateral malar and maxillary hypoplasia, cleft palate (90 %), microtia, coloboma of the eyelid
- limb anomalies: absence of fingers (including the big toe), anomalies of the ulna.
Sometimes congenital cardiopathy.
Anesthetic implications:
difficult intubation. Management of a cleft palate. Difficult venous access. Gastro-esophageal reflux.
References :
- Stevenson GW, Hall SC, Bauer BS, Vicari FA, Seleny FL.
Anaesthetic management of Miller's syndrome.
Can J Anaesth 1991; 38: 1046-9.
- Geneviève D, Captier G, Blanchet C.
Syndromes avec fentes labiopalatines.
In Syndromes dysmorphiques coordonné par Lacombe D et Philip N, Collection Progrès en Pédiatrie, Doin 2013, p 261-82.
Updated: December 2018