AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM

The Joubert syndrome is characterized by hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment. The molar tooth sign is the pathognomonic midbrain-hindbrain malformation for Joubert syndrome. Joubert syndrome and related disorders (JSRD),...

Full description

Saved in:

Bibliographic Details
Published in:	Genetic counseling Vol. 27; no. 3; p. 367
Main Authors:	Erol, S, Demirel, N, Bas, A Y, Ozcan, B, Celik, I H, Isik, D Ulubas
Format:	Journal Article
Language:	English
Published:	Switzerland 01-01-2016
Subjects:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Agenesis of Corpus Callosum - diagnosis Agenesis of Corpus Callosum - genetics Agenesis of Corpus Callosum - pathology Brain - abnormalities Brain - pathology Cerebellum - abnormalities Eye Abnormalities - diagnosis Eye Abnormalities - genetics Humans Hypopituitarism - diagnosis Hypopituitarism - genetics Infant, Newborn Kidney Diseases, Cystic - diagnosis Kidney Diseases, Cystic - genetics Magnetic Resonance Imaging Male Prognosis Retina - abnormalities
Online Access:	Get more information
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	The Joubert syndrome is characterized by hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment. The molar tooth sign is the pathognomonic midbrain-hindbrain malformation for Joubert syndrome. Joubert syndrome and related disorders (JSRD), are the clinically and genetically heterogen disorders in which the obligatory hallmark is the molar tooth sign (MTS). In this report, it was described the association of the molar tooth sign, absence of pituitary gland and corpus callosum agenesis on an infant with JSRD. To the best of our knowledge, this is the first case diagnosed as JSRD and panhypopituitarism without features of OFD VI.
ISSN:	1015-8146