Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

Wuyts, Wim; Roland, Dominique; Lüdecke, Hermann‐Josef; Wauters, J.; Foulon, Martine; Hul, Wim Van; Maldergem, Lionel Van

doi:10.1002/ajmg.10845

Cited by 44 publications

(45 citation statements)

References 29 publications

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“…Testing for Langer-Giedion syndrome by FISH analysis was prompted because of the presence of the exostosis in conjunction with his facial features and borderline development. Wuyts et al [2002] reported a patient with a small deletion affecting EXT1 and not TRPS1. This child was much older, aged 12 years, and had hypertrichosis, evident since age 5 years.…”

Section: Discussionmentioning

confidence: 97%

Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion without TRPS1 deletion

McBrien

Crolla

Huang

et al. 2008

American J of Med Genetics Pt A

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Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer-Giedion like phenotype, also had some unusual features including prominent toe pads and fat pads on the soles of his feet similar to those described in Pierpont syndrome.

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Section: Discussionmentioning

confidence: 97%

Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion without TRPS1 deletion

McBrien

Crolla

Huang

et al. 2008

American J of Med Genetics Pt A

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“…22 The characteristics of the present patient, including multiple exostoses, mental retardation, short stature, small head, unusual facial appearance, and cone-shaped epiphyses of the hands, sufficiently fulfilled all the major criteria of this disease, 14,19,20 except for a bulbous nose. Recently, patients with clinical features very similar to LGS, but with epilepsy, were reported by two authors 23,24 as a different criteria from LGS. The lack of a chromosome analysis and the past history of epilepsy in this patient make a definite diagnosis difficult.…”

Section: Discussionmentioning

confidence: 99%

Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses–mental retardation syndrome (Langer–Giedion syndrome)

et al. 2004

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Study design: Case report of a severe upper cervical cord compression and tetraparesis by a massive cervical exostotic osteochondroma in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome; LGS). Objective: To describe this very rare pathological condition and the results of surgical intervention. Setting: Gifu, Japan. Methods: A 23-year-old man was referred to our clinic because of progressing tetraparesis. He had previously been diagnosed with hereditary multiple exostoses and mental retardation. As he had not complained of any symptoms, his family only noticed the tetraparesis after advanced deterioration. His face possessed the pathognomic features of LGS. A postmyelogram CT scan demonstrated an exostotic mass arising from the left-side C2 pedicle with associated severe spinal cord compression. He was diagnosed with LGS. Hemilaminectomy on the left side and resection of the osteochondroma were performed. Results: At 5 years postoperatively, a neurological examination showed the full return of all motor functions. The CT scan revealed no intracanalar recurrence of the tumor. Conclusion: In this case of severe tetraparesis due to cervical osteochondroma, decompression by hemilaminectomy provided excellent results. In patients with LGS and intracanalar osteochondroma, the neurological deficit may be masked by mental retardation. Hence, awareness of this pathological condition will help clinicians diagnose it at an early stage.

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“…Taking into account that deletions of 8q24 also result in seizure syndromes such as Langer-Giedion syndrome [Hilton et al, 2001;Wuyts et al, 2002], candidate genes at 8q24 might be responsible for the epileptic phenotype in a dosage-sensitive manner. However, it should also be noted that not all trisomies of distal chromosome 8 result in epilepsy [Ounap et al, 2002].…”

Section: Genotype/phenotype Correlationmentioning

confidence: 99%

Trisomy 8q and partial trisomy 22 in a 43‐year‐old man with moderate intellectual disability, epilepsy and large cell non‐Hodgkin lymphoma

Helbig

Wirtenberger

Jauch

et al. 2006

American J of Med Genetics Pt A

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Partial trisomies are chromosome abnormalities resulting in a broad range of malformations depending on the size and location of the chromosomal rearrangement. Whereas diagnosis of these syndromes is usually made in early childhood, few descriptions exist about the clinical picture in adulthood. We report on a patient diagnosed at the age of 43 years with a 47,XY,+der(22)t(8;22)(q24.13;q11.21) karyotype and predominant clinical features of trisomy 8q. To our knowledge, this is the oldest patient described with a partial trisomy 8. The patient presented with moderate intellectual disability, a past history of epilepsy and facial anomalies. In addition, a large cell non-Hodgkin lymphoma was diagnosed in adulthood. Detailed breakpoint mapping by single nucleotide polymorphism (SNP) arrays showed that the derivative chromosome contains a full-length copy of the C-MYC oncogene. Given that trisomy 8q is the most frequent secondary chromosomal abnormality in hematological diseases, the possibility of a genetic predisposition for these disorders in patients with 8q duplication is raised.

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Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

Cited by 44 publications

References 29 publications

Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion without TRPS1 deletion

Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion without TRPS1 deletion

Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses–mental retardation syndrome (Langer–Giedion syndrome)

Trisomy 8q and partial trisomy 22 in a 43‐year‐old man with moderate intellectual disability, epilepsy and large cell non‐Hodgkin lymphoma

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