Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

被引：0

作者：

Maria Francesca Bedeschi

Vera Bianchi

Barbara Gentilin

Lorenzo Colombo

Federica Natacci

Sabrina Giglio

Elena Andreucci

Laura Trespidi

Barbara Acaia

Andrea Superti Furga

Faustina Lalatta

机构：

[1] Mangiagalli e Regina Elena,U.O.D. Genetica Medica, Dipartimento Salute della donna, del bambino, del neonato Fondazione IRCCS Policlinico

[2] Mangiagalli e Regina Elena,Unità di terapia intensiva neonatale, Fondazione IRCCS, Ospedale Maggiore Policlinico

[3] Azienda Ospedaliera Universitaria Meyer,Unità di Genetica Medica

[4] Mangiagalli e Regina Elena,I Clinica Ginecologica e Ostetrica, Fondazione IRCCS Policlinico

[5] Università di Friburgo,Dipartimento di Pediatria

来源：

Orphanet Journal of Rare Diseases | / 6卷

关键词：

Club Foot; Skeletal Dysplasia; COL2A1 Gene; Otosclerosis; Brachydactyly;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In such cases, a pregnancy may unexpectedly reveal hidden problems and special needs. A 28 year old primigravida was referred to us at 17 weeks for counselling with an undiagnosed skeletal dysplasia with specific skeletal anomalies suggesting the collagen 2 disorder, spondyloperipheral dysplasia (SPD; MIM 156550).

引用

共 37 条

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Trespidi, Laura
Acaia, Barbara
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ORPHANET JOURNAL OF RARE DISEASES, 2011, 6
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Zhang, Zeng
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He, Jin-Wei
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Zhang, Chang-Qing
Zhang, Zhen-Lin
GENE, 2013, 522 (01) : 107 - 110
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Human Genome Variation, 4 (1)
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Seegmiller, RE
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MATRIX BIOLOGY, 2003, 22 (05) : 449 - 453
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[7] A case report on skeletal dysplasia with COL2A1 mutation
Liew, Nyan Chin
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BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2024, 132 : 20 - 20
[8] Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report
Sangsin, Apiruk
Srichomthong, Chalurmpon
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BMC MEDICAL GENETICS, 2016, 17
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Desir, Julie
Cassart, Marie
Donner, Catherine
Coucke, Paul
Abramowicz, Marc
Mortier, Geert
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (08) : 1948 - 1952

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