The tricho‐rhino‐phalangeal syndrome with exostoses (or Langer‐Giedion syndrome): Four additional patients without mental retardation and review of the literature

Langer, Leonard O.; Krassikoff, Natalie; Laxová, Renata; Scheer‐Williams, Mary; Lutter, Lowell D.; Gorlin, Robert J.; Jennings, Charles; Day, Donald W.

doi:10.1002/ajmg.1320190110

Cited by 98 publications

(51 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…As its name indicates, this syndrome involves abnormalities of hair, nose, and phalanges, and other features include microcephaly, mental retardation, and multiple exostoses (115).…”

Section: Chromosomementioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

View full text Add to dashboard Cite

Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

show abstract

“…As its name indicates, this syndrome involves abnormalities of hair, nose, and phalanges, and other features include microcephaly, mental retardation, and multiple exostoses (115).…”

Section: Chromosomementioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

View full text Add to dashboard Cite

show abstract

“…6 Exostoses are bony protuberances which are found on the long bones. 8 In addition to the DEFECT 11 syndrome, these benign bone tumours can also be found in another contiguous gene syndrome, the Langer-Giedion syndrome (LGS) 9 or they can be present as an isolated autosomal dominant condition. In approximately 2-5% of the patients, malignant transformation of an exostosis occurs, resulting in the development of a chondrosarcoma 10,11 So far two EXT genes have already been identified, EXT1 on chromosome 8q24 12 and EXT2 on chromosome 11p11-p12, 13,14 while a third locus, EXT3, has been mapped on chromosome 19p.…”

Section: Introductionmentioning

confidence: 99%

Molecular and clinical examination of an Italian DEFECT 11 family

et al. 1999

View full text Add to dashboard Cite

The DEFECT 11 syndrome is a contiguous gene syndrome associated with deletions in the proximal part of chromosome 11p. In this study, we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. The latter may be a yet undescribed feature of DEFECT 11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT 11 syndrome.

show abstract

“…In our case, Nearly 70% of LGS patients exhibit mild to moderate cognitive disability [3,9,10]. Although developmental delays and disabilities in LGS have been attributed to the deletion of genes outside the TRPS1-EXT1 interval, the identity of the speci c genes involved, is still under investigation.…”

Section: Introductionmentioning

confidence: 73%

Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation

et al. 2018

View full text Add to dashboard Cite

eISSN 2093-6338 is characterized by craniofacial dysmorphisms (bulbous nose, prominent philtrum, thickened alae nasi, and large prominent ears), ectodermal anomalies (sparse, slowly growing scalp hair), skeletal abnormalities (short stature, brachydactyly), multiple osteochondromas, and intellectual disability [3,4]. Here, we present a case of LGS with complex chromosomal rearrangements. This case is the second report worldwide on the complex chromosomal rearrangement causing LGS and the rst such report in Korea [3]. CASE REPORTThe patient was a 5-month-old girl, born at 39 weeks of gestation with a 3.8 kg birth weight, and with chief symptoms of clinodactyly and weakness in both thumbs. She had facial dysmorphisms such as brachycephaly, a bulbous nose, prominent alae nasi, thick nasal septum, prominent ears, and a missing uvula. She also had Langer-Giedion syndrome is a very rare genetic disorder that is caused by the deletion on chromosome 8q24.1, encompassing the TRPS1 and EXT1 genes. We describe a 5-month-old female patient who was admitted to our hospital with clinodactyly and weakness in both thumbs. The patient's karyotype was 46,XX,der(4)t(4;19)(q27;q11),der(8)t(4;8)(q27;q22.3),der(19)t(8;19)(q22.3;q11)del(8)(q23q24.1). Multiplex ligation-dependent probe amplification (MLPA) analysis showed that the patient had a heterozygous deletion, rsa 8q24(P064)x1 and rsa 8q24(P245)x1. Array comparative genomic hybridization (CGH) analysis further revealed three interstitial deletions spanning a total of 13.7 Mb at 8q23.1-q24.13. Based on clinical findings and confirmation by cytogenetic, MLPA, and array CGH analyses, the patient was diagnosed with sporadic Langer-Giedion syndrome with three-way translocations. This is the first case of Langer-Giedion syndrome with complex chromosomal rearrangements in Korea.

show abstract

The tricho‐rhino‐phalangeal syndrome with exostoses (or Langer‐Giedion syndrome): Four additional patients without mental retardation and review of the literature

Cited by 98 publications

References 27 publications

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Molecular and clinical examination of an Italian DEFECT 11 family

Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation

Contact Info

Product

Resources

About