Ehlers-Danlos syndrome (EDS) type VIIC is a newly recognized human disorder which results from failure to remove the aminoterminal propeptide of type I procollagen. Four cases of EDS type VIIC have been reported, and here we describe a fifth case. The propositus was a 1,445 g male infant born at 30
Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report
✍ Scribed by Rincón-Sánchez, Ana Rosa; Arce, Irma Elia; Tostado-Rabago, Enrique Alejandro; Vargas, Alberto; Padilla-Gómez, Luis Alfredo; Bolaños, Alejandro; Barrios-Guyot, Selenne; Anguiano-Alvarez, Víctor Manuel; Ledezma-Rodríguez, Víctor Chistian; Islas-Carbajal, María Cristina; Rivas-Estilla, Ana María; Feria-Velasco, Alfredo; Dávalos, Nory Omayra
- Book ID
- 120557797
- Publisher
- S. Karger AG
- Year
- 2012
- Tongue
- English
- Weight
- 1014 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1662-6567
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## Abstract We describe a newborn infant with multiple congenital skull fractures and intracranial hemorrhage. He also had multiple skin folds suggesting a connective tissue abnormality. Electron microscopy of the skin biopsy showed collagen abnormalities with a “hieroglyphic appearance.” The analy