Acromicric dysplasia

This chapter discusses acromesomelic and acromelic dysplasias/dysostoses and related disorders and includes discussion on acromesomelic dysplasias (Maroteaux type), Grebe dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal dysplasia (type 1), tricho-rhino-phalangeal dysplasia (type 2), acrocapitofemoral dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic dysplasia, acromicric dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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Geleophysic dysplasia—acromicric dysplasia with evidence of glycoprotein storage

American Journal of Medical Genetics ◽

10.1002/ajmg.1320280522 ◽

1987 ◽

Vol 28 (S3) ◽

pp. 181-189 ◽

Cited By ~ 16

Author(s):

Anthony H. Lipson ◽

Alex E. Kan ◽

Kasimir Kozlowski ◽

John M. Opitz ◽

Jay Bernstein

Keyword(s):

Acromicric Dysplasia

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Acromicric dysplasia

American Journal of Medical Genetics ◽

10.1002/ajmg.1320240307 ◽

1986 ◽

Vol 24 (3) ◽

pp. 447-459 ◽

Cited By ~ 26

Author(s):

Pierre Maroteaux ◽

Ritta Stanescu ◽

Victor Stanescu ◽

Raphaël Rappaport ◽

James F. Reynolds

Keyword(s):

Acromicric Dysplasia

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Acromicric dysplasia and geleophysic dysplasia: similarities and differences

European Journal of Pediatrics ◽

10.1007/s004310050407 ◽

1996 ◽

Vol 155 (4) ◽

pp. 311-314 ◽

Cited By ~ 1

Author(s):

R. C. M. Hennekam ◽

Yolande van Bever ◽

Johanna W. E. Oorthuys

Keyword(s):

Similarities And Differences ◽

Acromicric Dysplasia

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Clinical and genetic characteristics of rare variants of acromelic skeletal dysplasias caused by mutations in the FBN1 gene

Pediatric Traumatology Orthopaedics and Reconstructive Surgery ◽

10.17816/ptors65367 ◽

2021 ◽

Vol 9 (3) ◽

pp. 327-337

Author(s):

Tatyana V. Markova ◽

Vladimir M. Kenis ◽

Evgenii V. Melchenko ◽

Tatyana S. Nagornova ◽

Aysylu F. Murtazina ◽

...

Keyword(s):

Amino Acid ◽

Growth Factor ◽

Transforming Growth Factor Beta ◽

Transforming Growth Factor ◽

Polypeptide Chain ◽

Clinical Manifestations ◽

Genetic Characteristics ◽

Fbn1 Gene ◽

Growth Factor Beta ◽

Acromicric Dysplasia

BACKGROUND: Geleophysic dysplasia and acromicric dysplasia are rare hereditary diseases characterized by dwarfism and dysplastic skeletal features. In the literature, only a few cases of geleophysic dysplasia and acromicric dysplasia caused by mutations in the FBN1 gene are described. CLINICAL CASES: A description of the clinical and genetic characteristics of three female patients with acromelic dysplasias caused by three types of missense mutations in the FBN1 gene is presented. In two patients, on the basis of clinical manifestations and radiographic examination, acromicric dysplasia, and in one patient geleophysic dysplasia were diagnosed. It was shown that all identified mutations were localized in exons of the FBN1 gene encoding the amino acid sequence of the fifth domain, which has homology with transforming growth factor-beta. DISCUSSION: We have analyzed the clinical and genetic correlations to confirm the previously stated hypothesis about the occurrence of a severe phenotype of geleophysic dysplasia in patients with the c.5206T C mutation. This mutation is characterized by the replacement of cysteine by arginine in the position of the polypeptide chain leading to moderate clinical manifestations of acromicric dysplasia in patients with the c.5284 G A (p. Gly1762Ser). It was shown that the previously undescribed substitution c.5177G A (p.Gly1726Asp and another previously described mutation in this codon resulted in the replacement of glutamine with valine. This mutation causes the appearance of a less pronounced phenotype of AD. CONCLUSIONS: Based on the results of the examination of three Russian patients and analysis of clinical and radiographic parameters described in the literature, we reported that mutations in the FBN1 gene disrupted the amino acid sequence of the fifth like transforming growth factor-beta domain of fibrillin type 1. Importantly, these mutations are responsible for the occurrence of geleophysic dysplasia and acromicric dysplasia. However, the most severe clinical manifestations were observed in patients with mutations leading to the substitution of cysteine for arginine at the position of the polypeptide chain 1736. This may lead to affecting the transforming growth factor-beta signaling pathway.

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Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2016-0258 ◽

2017 ◽

Vol 30 (1) ◽

Cited By ~ 2

Author(s):

Kosei Hasegawa ◽

Chikahiko Numakura ◽

Hiroyuki Tanaka ◽

Mahoko Furujo ◽

Toshihide Kubo ◽

...

Keyword(s):

Growth Factor ◽

Respiratory Distress ◽

Transforming Growth Factor ◽

Radiological Findings ◽

Skeletal Dysplasias ◽

Radiological Features ◽

Fibrillin 1 ◽

Hands And Feet ◽

Tubular Bones ◽

Acromicric Dysplasia

AbstractAcromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinical and radiological features. Radiological findings of AD and GD consist of shortened tubular bones of the hands and feet, and deformed capital femoral epiphyses. The genetic cause of AD and some cases of GD was shown to be mutations in the transforming growth factor (TGF) β-binding protein-like domain 5 of the fibrillin 1 gene (

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