Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

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Standard

Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia. / Bayat, Allan; Dunø, Morton; Kirchhoff, Maria; Jørgensen, Finn S; Nishimura, Gen; Hove, Hanne B.

In: Molecular Syndromology, Vol. 11, No. 2, 2020, p. 83-89.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Bayat, A, Dunø, M, Kirchhoff, M, Jørgensen, FS, Nishimura, G & Hove, HB 2020, 'Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia', Molecular Syndromology, vol. 11, no. 2, pp. 83-89. https://doi.org/10.1159/000506384

APA

Bayat, A., Dunø, M., Kirchhoff, M., Jørgensen, F. S., Nishimura, G., & Hove, H. B. (2020). Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia. Molecular Syndromology, 11(2), 83-89. https://doi.org/10.1159/000506384

Vancouver

Bayat A, Dunø M, Kirchhoff M, Jørgensen FS, Nishimura G, Hove HB. Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia. Molecular Syndromology. 2020;11(2):83-89. https://doi.org/10.1159/000506384

Author

Bayat, Allan ; Dunø, Morton ; Kirchhoff, Maria ; Jørgensen, Finn S ; Nishimura, Gen ; Hove, Hanne B. / Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia. In: Molecular Syndromology. 2020 ; Vol. 11, No. 2. pp. 83-89.

Bibtex

@article{f70bda56b9ca4696beb33ae56d4bfb11,
title = "Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia",
abstract = "Autosomal recessive omodysplasia (GPC6-related) is a rare short-limb skeletal dysplasia caused by biallelic mutations in the GPC6 gene. Affected individuals manifest with rhizomelic short stature, decreased mobility of elbow and knee joints as well as craniofacial anomalies. Both upper and lower limbs are severely affected. These manifestations contrast with normal height and limb shortening restricted to the arms in autosomal dominant omodysplasia (FZD2-related). Here, we report 2 affected brothers of Pakistani descent from Denmark with GPC6-related omodysplasia, aiming to highlight the clinical and radiological findings. A homozygous deletion of exon 6 in the GPC6 gene was detected. The pathognomonic radiological findings were distally tapered humeri and femora as well as severe proximal radioulnar diastasis. On close observations, we identified a recurrent and not previously described type of abnormal patterning in all long bones.",
author = "Allan Bayat and Morton Dun{\o} and Maria Kirchhoff and J{\o}rgensen, {Finn S} and Gen Nishimura and Hove, {Hanne B}",
note = "Copyright {\textcopyright} 2020 by S. Karger AG, Basel.",
year = "2020",
doi = "10.1159/000506384",
language = "English",
volume = "11",
pages = "83--89",
journal = "Molecular Syndromology",
issn = "1661-8769",
publisher = "S Karger AG",
number = "2",

}

RIS

TY - JOUR

T1 - Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

AU - Bayat, Allan

AU - Dunø, Morton

AU - Kirchhoff, Maria

AU - Jørgensen, Finn S

AU - Nishimura, Gen

AU - Hove, Hanne B

N1 - Copyright © 2020 by S. Karger AG, Basel.

PY - 2020

Y1 - 2020

N2 - Autosomal recessive omodysplasia (GPC6-related) is a rare short-limb skeletal dysplasia caused by biallelic mutations in the GPC6 gene. Affected individuals manifest with rhizomelic short stature, decreased mobility of elbow and knee joints as well as craniofacial anomalies. Both upper and lower limbs are severely affected. These manifestations contrast with normal height and limb shortening restricted to the arms in autosomal dominant omodysplasia (FZD2-related). Here, we report 2 affected brothers of Pakistani descent from Denmark with GPC6-related omodysplasia, aiming to highlight the clinical and radiological findings. A homozygous deletion of exon 6 in the GPC6 gene was detected. The pathognomonic radiological findings were distally tapered humeri and femora as well as severe proximal radioulnar diastasis. On close observations, we identified a recurrent and not previously described type of abnormal patterning in all long bones.

AB - Autosomal recessive omodysplasia (GPC6-related) is a rare short-limb skeletal dysplasia caused by biallelic mutations in the GPC6 gene. Affected individuals manifest with rhizomelic short stature, decreased mobility of elbow and knee joints as well as craniofacial anomalies. Both upper and lower limbs are severely affected. These manifestations contrast with normal height and limb shortening restricted to the arms in autosomal dominant omodysplasia (FZD2-related). Here, we report 2 affected brothers of Pakistani descent from Denmark with GPC6-related omodysplasia, aiming to highlight the clinical and radiological findings. A homozygous deletion of exon 6 in the GPC6 gene was detected. The pathognomonic radiological findings were distally tapered humeri and femora as well as severe proximal radioulnar diastasis. On close observations, we identified a recurrent and not previously described type of abnormal patterning in all long bones.

U2 - 10.1159/000506384

DO - 10.1159/000506384

M3 - Journal article

C2 - 32655339

VL - 11

SP - 83

EP - 89

JO - Molecular Syndromology

JF - Molecular Syndromology

SN - 1661-8769

IS - 2

ER -

ID: 255557720