PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 8682351

[Joubert syndrome].

E Scheuer·T Lerman-Sagie·A Fattal·J J Meir·S Harel
View original source ↗Export metadata ↓

Abstract

Joubert syndrome was first described in 1969 and 100 cases have been published so far. It includes: partial or complete agenesis of the vermis, episodic hyperpnea, ataxia, a disorder of ocular movement and mental retardation. It is autosomal recessive and there are descriptions of families with involvement of multiple children, both boys and girls. Since dysmorphic signs are not prominent in this syndrome, diagnosis is often delayed. To the best of our knowledge, Joubert syndrome has not been previously described in Israel. We present a family with 3 siblings with this syndrome. Increased awareness will lead to earlier diagnosis, proper developmental treatment, and accurate genetic counseling.

Explore related subjects

Abnormalities, MultipleAtaxiaCerebellumFemaleHumansIntellectual DisabilityMaleOcular Motility DisordersSyndromeEnglish AbstractJournal Article

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

E Scheuer, T Lerman-Sagie, A Fattal, J J Meir, S Harel. 1995-12-15. [Joubert syndrome].. https://pubmed.ncbi.nlm.nih.gov/8682351/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2007

De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies.

Reports of small proximal 1q duplications are rare. We report a 1 month-old female who was referred to clinic because she was believed to have features suggestive of Turner syndrome. The patient's dysmorphic features included a prominent nose, low-set and crumpled ears, slightly high palate, short neck, high-pitched cry, mild micrognathia, hypoplastic labia majora, and somewhat deep palmar creases. Traditional G-band chromosome studies of the patient were interpreted as 46,XX,dup(1)(q12q21). To further evaluate the extent of the chromosome 1 duplication, Spectral Karyotyping and a series of six fluorescence in situ hybridization (FISH) probes were utilized. The FISH probes refined the extent of the duplication to involve the region 1(q12q22) indicating the duplicated segment was larger than interpreted by the G-banding studies. This first case of non-mosaic proximal duplication of 1q to be characterized by multiple locus specific FISH probes should allow a more refined delineation of the phenotypic findings and clinical significance associated with this rare chromosomal duplication.

Abnormalities, Multiple↗
PubMed2007

Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review.

We report on a 26-year-old male with profound psychomotor retardation and a pattern of dysmorphic features and malformations characteristic for duplication of the short arm of chromosome 16. He has an elongated face, sparse hair, upslanting palpebral fissures, anteverted nostrils, hypoplastic thumbs on both hands, and dislocation of several joints. His chromosome aberration was diagnosed at birth and was due to an unbalanced segregation of a maternal translocation t(2;16)(q36;p11). At 26 years of age he is, to the best of our knowledge, the oldest patient with duplication of 16p reported to date. We present a long-term observation of growth, psychomotor development, dysmorphic features and evolution of his skeletal and joint defects as well as a review of the literature.

Abnormalities, Multiple↗