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
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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：
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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).
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