[MIM 182 212]

Not to be confused with Goldberg-Shprintzen syndrome, which is a microcephaly often associated with Hirschsprung's disease !

Incidence: < 1/106. Autosomal dominant transmission but sporadic occurrence in 25 % of cases of mutations of the SKI gene (1p36).

Association of:

-        marfanoid phenotype: arachnodactyly, aortic dilatation, thoracic deformities (pectus excavatum or carinatum), scoliosis, joint hyperlaxity

-        craniosynostosis: dolichocephaly

-        facial dysmorphism: maxillary hypoplasia with retrognathia, high-arched palate, bulging forehead, hypertelorism, downslanting palpebral  fissures, low set ears

-        cardiac anomalies: ASD, VSD, mitral valve prolapse with or without regurgitation, progressive dilatation of the aorta (80 %)

-        parietal hernias

-        abnormalities of the C1 and C2 vertebrae; sometimes hydrocephalus and Arnold-Chiari malformation (see this term)

-        mild mental retardation is often present

Anesthetic implications:

see Marfan's syndrome ; risk of difficult intubation; fragile dura mater.

References : 

• Gupta AK, Divekar DS, Shah B, Dhulkhed VK. 
  Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome. 
  Pediatr Anesth 2010; 20 : 771-3. 
• Castro-Aleman AM, Bolaņos-Guzman DP, Maillard-Olvera J, Torres-Maldonado AS.
  Regional anesthesia in a patient with Shprintzen-Goldberg syndrome: a case report.
  A&A Practice 2023;17:e01667

Updated: April 2023