Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Détails

ID Serval
serval:BIB_5AE612E6DE45
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
Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
Périodique
American Journal of Medical Genetics. Part A
Auteur⸱e⸱s
Garavelli L., Simonte G., Rosato S., Wischmeijer A., Albertini E., Guareschi E., Longo C., Albertini G., Gelmini C., Greco C., Errico S., Savino G., Pavanello M., Happle R., Unger S., Superti-Furga A., Grzeschik K.H.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2013
Peer-reviewed
Oui
Volume
161
Numéro
7
Pages
1750-1754
Langue
anglais
Notes
Publication types: Journal Article Publication Status: ppublish
PubMed:case reports
Résumé
Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system, and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder. © 2013 Wiley Periodicals, Inc.
Pubmed
Web of science
Création de la notice
18/07/2013 17:42
Dernière modification de la notice
20/08/2019 14:13
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