[MIM 618 150]

Described in a few patients only. Skeletal dysplasia associated with a heterozygous mutation of the COG4 gene (16q22.1). The oligomeric complex of Golgi (COG) controls the antero and retrograde trafficking of vesicular proteins and interacts with many proteins involved in intravesicular transport.

Association of:

-        facial dysmorphism: frontal bumps with a large anterior fontanel (depression at the level of the metopic suture), midface hypoplasia, micrognathia, bulging eyes, thin nasal base with a hooked nose

-        microcephaly

-        short stature

-        brachydactyly

-        clubfoot

-        cataract

-        progressive hearing loss

Typical XRays:  vertebral bodies irregularities,  odontoid process hypoplasia, short phalanges, megaepiphyses of the long bones

Anesthetic implications:

difficult intubation, instability of the neck

References : 

-          Ferreira CR, Xia Z-J, Clément A, Parry DA, Davids M et al.
A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson, disrupted vesicular trafficking and altered proteoglycan glycosylation.
Am J Med Genet 2018 ; 103 : 553-67.

-        Matar M.
Anesthetic considerations in Saul-Wilson syndrome, a rare skeletal dysplasia : a case report.
A&A Practice 2019 ; 13 : 93-5.

Updated: August 2021