Abstract: We examined a father and son affected by Ehlers‐Danlos syndrome type II. Both patients had micrognathia together with ligament and skin hy‐perlaxity. The son exhibited complete cleft palate. Ultrastructural studies revealed abnormal collagen fibrils in the dermis of both patients. In the child the most striking alterations consisted of lateral fusion of an enormous number of collagen fibrils giving rise to huge polymorphic collagen masses. In the father's dermis the great majority of collagen fibrils appesired normal; however, lateral fusion of fibrils together with local abnormal collagen aggregation were occasionally seen. In both patients the dermal elastic network was well developed and elastic fibers appeared normal. Copyright © 1987, Wiley Blackwell. All rights reserved

Familial Ehlers‐Danlos Syndrome Type II: Abnormal Fibrillogenesis of Dermal Collagen / Rizzo, R.; Contri, M. B.; Micafi, G.; Quaglino, D.; Pavone, L.; Ronchetti, I. P.. - In: PEDIATRIC DERMATOLOGY. - ISSN 0736-8046. - 4:3(1987), pp. 197-204. [10.1111/j.1525-1470.1987.tb00778.x]

Familial Ehlers‐Danlos Syndrome Type II: Abnormal Fibrillogenesis of Dermal Collagen

Contri M. B.;Quaglino D.;
1987

Abstract

Abstract: We examined a father and son affected by Ehlers‐Danlos syndrome type II. Both patients had micrognathia together with ligament and skin hy‐perlaxity. The son exhibited complete cleft palate. Ultrastructural studies revealed abnormal collagen fibrils in the dermis of both patients. In the child the most striking alterations consisted of lateral fusion of an enormous number of collagen fibrils giving rise to huge polymorphic collagen masses. In the father's dermis the great majority of collagen fibrils appesired normal; however, lateral fusion of fibrils together with local abnormal collagen aggregation were occasionally seen. In both patients the dermal elastic network was well developed and elastic fibers appeared normal. Copyright © 1987, Wiley Blackwell. All rights reserved
4
3
197
204
Familial Ehlers‐Danlos Syndrome Type II: Abnormal Fibrillogenesis of Dermal Collagen / Rizzo, R.; Contri, M. B.; Micafi, G.; Quaglino, D.; Pavone, L.; Ronchetti, I. P.. - In: PEDIATRIC DERMATOLOGY. - ISSN 0736-8046. - 4:3(1987), pp. 197-204. [10.1111/j.1525-1470.1987.tb00778.x]
Rizzo, R.; Contri, M. B.; Micafi, G.; Quaglino, D.; Pavone, L.; Ronchetti, I. P.
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/1227181
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 9
  • ???jsp.display-item.citation.isi??? ND
social impact