[MIM 220 210]

Very rare. Autosomal recessive transmission of a mutation of MASP1 (3MC1) (3q27.3) or  COLEC11 (3MC2) (2p25.3) gene. Includes 4 autosomal recessive syndromes: Malpuech  [MIM 248 340], Michels or oculopalatoskeletal [MIM 257 920], Mingarelli and Carnevale [MIM 265 050] syndromes.

Association of

-         craniofacial abnormalities: hypertelorism (sometimes inverse epicanthus), arched eyebrows, blepharophimosis, cleft lip and or palate; craniosynostosis

-         sometimes, abnormalities of the anterior chamber of the eye: aniridia, glaucoma, corneal anomalies

-         urogenital defects; 'shuttle-like' umbilicus (hernia associated with a diastasis of recti muscles)

-         skeletal malformations: radiocubital synostosis,  sacrococcygeal appendix

-         growth retardation

-         moderate to severe intellectual deficit, deafness

-         cardiac malformation (20-30%)

Anesthetic implications

cardiac echography; risk of difficult intubation. Management of cleft lip or palate. Glaucoma?

Références:

•        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.
•        Kiernan F, Crowe S.
  Malpuech syndrome : implications for anesthetic management.
  Pediatr Anesth 2010 ; 20 : 370-1.
•        Oksüz G, Urfahoglu A, Bilal B, Arslan M. 
  Anaesthetic management of a patient with Michels syndrome.
  J Clin Anesth 2017 ; 38 :20-1.

Updated: February 2017