Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mental retardation (MR) is a typical feature of Langer-Giedion syndrome (LGS). Only 18 cases of LGS without MR have been reported. All of them either had normal karyotype or carried a deletion not exceeding the 8q24 band. Thus, it has been proposed that MR in LGS patients is associated with larger deletions. A patient with LGS and a large 8q23.2-q24.22 deletion but without MR is reported. This case suggests that there is not any particular gene which alone is responsible for MR in LGS patients, but it is the reduced expression of a large number of genes which predisposes to MR.
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PMID:Langer-Giedion syndrome. A patient without mental retardation and a large 8q23.2-q24.22 deletion. 1078 92

Multiple exostoses represent a genetically heterogeneous disorder that may occur isolated or as part of a complex contiguous gene syndrome such as Langer-Giedion syndrome on chromosome 8 and the proximal 11p deletion syndrome on chromosome 11. Here we describe a boy with multiple exostoses, hypertrichosis, mental retardation, and epilepsy due to a de novo deletion on chromosome 8q24. Molecular analysis revealed that the deletion interval overlaps with the Langer-Giedion syndrome and involves the EXT1 gene and additional genes located distal to EXT1, but probably not encompassing the TRPS1 gene located proximal to EXT1.
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PMID:Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. 1245 3

We describe the anesthetic and perioperative management of a child with Langer-Giedion syndrome (trichorhinophalangeal syndrome type II). This is a very rare genetic syndrome caused by 8q chromosome deletion. The clinical features of this syndrome include craniofacial and urogenital abnormities, variable postnatal growth deficiency with mental retardation, multiple exostoses, hyperflexible joints, and recurrent respiratory tract infections. Potential perioperative problems are highlighted.
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PMID:Anesthetic management of a child with Langer-Giedion (TRPS II) syndrome. 1968 36

Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features. The characteristic appearance of individuals includes sparse scalp hair, rounded nose, prominent philtral area and thin upper lip. Some cases with this condition have loose skin in childhood which typically resolves with age. Oral and dental manifestations include micrognathia, retrognathia, hypodontia, and malocclusion based on cephalometric analysis. This report presents a case of Langer-Giedion syndrome in a 10-year-old child.
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PMID:Langer-Giedion Syndrome: a Rare Case Report. 2760 1


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