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

Détails

Ressource 1Télécharger: 21356074_BIB_119CBCBE88E7.pdf (533.71 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_119CBCBE88E7
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.
Périodique
Orphanet Journal of Rare Diseases
Auteur(s)
Bedeschi M.F., Bianchi V., Gentilin B., Colombo L., Natacci F., Giglio S., Andreucci E., Trespidi L., Acaia B., Furga A.S., Lalatta F.
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Statut éditorial
Publié
Date de publication
2011
Volume
6
Numéro
1
Pages
7
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Résumé
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).She was counselled about the probability of dominant inheritance and was offered a prenatal diagnosis by sonography. US examination at 17, 18 and 20 weeks revealed fetal macrocephaly, a narrow thorax, and shortening and bowing of long bones. The parents elected to continue the pregnancy. At birth the baby showed severe respiratory distress for four weeks which then resolved. Mutation analysis of both mother and child revealed a hitherto undescribed heterozygous nonsense mutation in the C-propeptide coding region of COL2A1 confirming the diagnosis of SPD while reinforcing the genotype-phenotype correlations between C-propeptide COL2A1 mutations and the SPD-Torrance spectrum. This case demonstrates the importance of a correct diagnosis even in adulthood, enabling individuals affected by rare conditions to be made aware about recurrence and pregnancy-associated risks, and potential complications in the newborn.
Pubmed
Web of science
Open Access
Oui
Création de la notice
14/03/2011 14:35
Dernière modification de la notice
20/08/2019 13:39
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