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Joubert syndrome

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Hypersplenism

A malfunctioning of the spleen in which it prematurely destroys red blood cells.

Total: 1

(per page)

PMID (PMCID)
28402911 (5389103)	OTHER
	Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report.
	Miyazawa K, Hara Y, Shimizu K, Nakanishi W, Tokodai K, Nakanishi C, Miyagi S, Kawagishi N, Ohuchi N. Int J Surg Case Rep. 2017;34:134-138.
	The patient was referred to our hospital, where she was diagnosed with Joubert syndrome and hepatic fibrosis, portal hypertension, and hypersplenism.