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Diversity of neuromuscular pathology in lethal multiple pterygium syndrome

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Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. / Cox, P M ; Brueton, L A ; Bjelogrlic, P ; Pomroy, P ; Sewry, C A .

In: Pediatric and Developmental Pathology, Vol. 6, 01.2003, p. 59-68.

Research output: Contribution to journalArticlepeer-review

Harvard

Cox, PM, Brueton, LA, Bjelogrlic, P, Pomroy, P & Sewry, CA 2003, 'Diversity of neuromuscular pathology in lethal multiple pterygium syndrome', Pediatric and Developmental Pathology, vol. 6, pp. 59-68. https://doi.org/10.1007/s10024-002-0042-9

APA

Cox, P. M., Brueton, L. A., Bjelogrlic, P., Pomroy, P., & Sewry, C. A. (2003). Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. Pediatric and Developmental Pathology, 6, 59-68. https://doi.org/10.1007/s10024-002-0042-9

Vancouver

Cox PM, Brueton LA, Bjelogrlic P, Pomroy P, Sewry CA. Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. Pediatric and Developmental Pathology. 2003 Jan;6:59-68. https://doi.org/10.1007/s10024-002-0042-9

Author

Cox, P M ; Brueton, L A ; Bjelogrlic, P ; Pomroy, P ; Sewry, C A . / Diversity of neuromuscular pathology in lethal multiple pterygium syndrome. In: Pediatric and Developmental Pathology. 2003 ; Vol. 6. pp. 59-68.

Bibtex - Download

@article{56d2dd93438247e2a224310703de4f18,
title = "Diversity of neuromuscular pathology in lethal multiple pterygium syndrome",
abstract = "Lethal multiple pterygium syndrome (LMPS) is an uncommon fetal-onset disorder of unknown etiology. The pathogenesis of LMPS has been suggested to be earlyonset fetal akinesia, fragile collagen, or generalized edema. Information on the neuromuscular pathology of LMPS in the literature is generally scanty. We present the findings from a review of 14 fetuses with features of LMPS from the archives of the Hammersmith Hospital Perinatal Pathology Department. Autopsy reports, photographs, fetograms, and histological sections were examined, and additional special stains and immunostaining were performed on muscle sections. In five cases, there was evidence of autosomal recessive inheritance. One case was later shown to be due to glycogen storage disease type IV. The skeletal muscle bulk was reduced in all fetuses and the remaining muscle showed a range of histological appearances including vacuolar degeneration, dystrophy, a generalized or patchy myotubular appearance, and generalized hypotrophy. In one, the histological appearance was essentially normal. Two cases had abnormalities in the brain. Large motor neurons were present in the anterior spinal horns of all fetuses in whom the spinal cord could be examined. There was no evidence of cartilaginous joint fusion. We conclude that LMPS is the phenotype resulting from fetal akinesia commencing in the first or early second trimester. In the majority of cases, the precise underlying cause will not be identified, however, occasionally a metabolic or neurodevelopmental disorder or a specific primary myopathy may be demonstrated, providing adequate autopsy investigations are under-taken.",
keywords = "genetics, lethal multiple pterygium syndrome, muscle pathology, neuropathology, AUTOSOMAL RECESSIVE FORM, CONGENITAL CONTRACTURES, MUSCLE, EXPRESSION, ANOMALIES, APOPTOSIS, HYDROPS, LUNGS",
author = "Cox, {P M} and Brueton, {L A} and P Bjelogrlic and P Pomroy and Sewry, {C A}",
year = "2003",
month = jan,
doi = "10.1007/s10024-002-0042-9",
language = "English",
volume = "6",
pages = "59--68",
journal = "Pediatric and Developmental Pathology",

}

RIS (suitable for import to EndNote) - Download

TY - JOUR

T1 - Diversity of neuromuscular pathology in lethal multiple pterygium syndrome

AU - Cox, P M

AU - Brueton, L A

AU - Bjelogrlic, P

AU - Pomroy, P

AU - Sewry, C A

PY - 2003/1

Y1 - 2003/1

N2 - Lethal multiple pterygium syndrome (LMPS) is an uncommon fetal-onset disorder of unknown etiology. The pathogenesis of LMPS has been suggested to be earlyonset fetal akinesia, fragile collagen, or generalized edema. Information on the neuromuscular pathology of LMPS in the literature is generally scanty. We present the findings from a review of 14 fetuses with features of LMPS from the archives of the Hammersmith Hospital Perinatal Pathology Department. Autopsy reports, photographs, fetograms, and histological sections were examined, and additional special stains and immunostaining were performed on muscle sections. In five cases, there was evidence of autosomal recessive inheritance. One case was later shown to be due to glycogen storage disease type IV. The skeletal muscle bulk was reduced in all fetuses and the remaining muscle showed a range of histological appearances including vacuolar degeneration, dystrophy, a generalized or patchy myotubular appearance, and generalized hypotrophy. In one, the histological appearance was essentially normal. Two cases had abnormalities in the brain. Large motor neurons were present in the anterior spinal horns of all fetuses in whom the spinal cord could be examined. There was no evidence of cartilaginous joint fusion. We conclude that LMPS is the phenotype resulting from fetal akinesia commencing in the first or early second trimester. In the majority of cases, the precise underlying cause will not be identified, however, occasionally a metabolic or neurodevelopmental disorder or a specific primary myopathy may be demonstrated, providing adequate autopsy investigations are under-taken.

AB - Lethal multiple pterygium syndrome (LMPS) is an uncommon fetal-onset disorder of unknown etiology. The pathogenesis of LMPS has been suggested to be earlyonset fetal akinesia, fragile collagen, or generalized edema. Information on the neuromuscular pathology of LMPS in the literature is generally scanty. We present the findings from a review of 14 fetuses with features of LMPS from the archives of the Hammersmith Hospital Perinatal Pathology Department. Autopsy reports, photographs, fetograms, and histological sections were examined, and additional special stains and immunostaining were performed on muscle sections. In five cases, there was evidence of autosomal recessive inheritance. One case was later shown to be due to glycogen storage disease type IV. The skeletal muscle bulk was reduced in all fetuses and the remaining muscle showed a range of histological appearances including vacuolar degeneration, dystrophy, a generalized or patchy myotubular appearance, and generalized hypotrophy. In one, the histological appearance was essentially normal. Two cases had abnormalities in the brain. Large motor neurons were present in the anterior spinal horns of all fetuses in whom the spinal cord could be examined. There was no evidence of cartilaginous joint fusion. We conclude that LMPS is the phenotype resulting from fetal akinesia commencing in the first or early second trimester. In the majority of cases, the precise underlying cause will not be identified, however, occasionally a metabolic or neurodevelopmental disorder or a specific primary myopathy may be demonstrated, providing adequate autopsy investigations are under-taken.

KW - genetics

KW - lethal multiple pterygium syndrome

KW - muscle pathology

KW - neuropathology

KW - AUTOSOMAL RECESSIVE FORM

KW - CONGENITAL CONTRACTURES

KW - MUSCLE

KW - EXPRESSION

KW - ANOMALIES

KW - APOPTOSIS

KW - HYDROPS

KW - LUNGS

UR - http://www.scopus.com/inward/record.url?scp=0346034994&partnerID=8YFLogxK

U2 - 10.1007/s10024-002-0042-9

DO - 10.1007/s10024-002-0042-9

M3 - Article

VL - 6

SP - 59

EP - 68

JO - Pediatric and Developmental Pathology

JF - Pediatric and Developmental Pathology

ER -

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