[MIM 256 520]

Polymalformative syndrome combining congenital ichthyosis and extracutaneous anomalies. Very rare. Autosomal recessive transmission. Intrauterine growth retardation with decreased fetal movements due to the dermal pathology restricting mobility.

At birth, there is:

-        collodion baby aspect at birth

-        arthrogryposis

-        facial dysmorphism: proptosis, ectropion, micrognathism, flat nose,  thick and rounded lips

-        microcephaly and anomalies of the central nervous system: lissencephaly type III, hypoplastic cerebellum and brainstem, Dandy-Walker syndrome

-        short neck,

-        pulmonary hypoplasia.

Usually, death in the neonatal period.

Anesthetic implications:

complex neonatal anesthesia

References : 

• Chiavérini C. 
  Ichtyoses génétiques. 
  Ann Dermatol Vénéréol 2009 ; 136 : 923-34.

Updated: November 2018