Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis

Maureen Murphy-Ryan, Apostolos Psychogios, Noralane Morey Lindor

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Purpose: To create a practical desk reference for clinicians focused on the differential diagnosis of individuals presenting with features that suggest an inherited disorder of connective tissue. Methods: We searched the medical literature for distinct clinical entities that shared clinical features with Marfan syndrome and other classical inherited disorders of connective tissue. Results: Thirty-six distinct heritable disorders of connective tissue were identified that have overlapping features. These disorders were organized into two matrices according to clinical characteristics and according to causative genes. Conclusions: A broad differential diagnosis is emerging for individuals presenting with features suggestive of altered connective tissue. Recent advances in molecular genetics have aided in the delineation of these disorders.

Original languageEnglish (US)
Pages (from-to)344-354
Number of pages11
JournalGenetics in Medicine
Volume12
Issue number6
DOIs
StatePublished - Jun 2010

Fingerprint

Connective Tissue
Differential Diagnosis
Marfan Syndrome
Molecular Biology
Genes

Keywords

  • aneurysm
  • aorta
  • connective tissue
  • dissection
  • vascular disease

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Hereditary disorders of connective tissue : A guide to the emerging differential diagnosis. / Murphy-Ryan, Maureen; Psychogios, Apostolos; Lindor, Noralane Morey.

In: Genetics in Medicine, Vol. 12, No. 6, 06.2010, p. 344-354.

Research output: Contribution to journalArticle

Murphy-Ryan, Maureen ; Psychogios, Apostolos ; Lindor, Noralane Morey. / Hereditary disorders of connective tissue : A guide to the emerging differential diagnosis. In: Genetics in Medicine. 2010 ; Vol. 12, No. 6. pp. 344-354.
@article{07039482e6534e80adb89b113c201846,
title = "Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis",
abstract = "Purpose: To create a practical desk reference for clinicians focused on the differential diagnosis of individuals presenting with features that suggest an inherited disorder of connective tissue. Methods: We searched the medical literature for distinct clinical entities that shared clinical features with Marfan syndrome and other classical inherited disorders of connective tissue. Results: Thirty-six distinct heritable disorders of connective tissue were identified that have overlapping features. These disorders were organized into two matrices according to clinical characteristics and according to causative genes. Conclusions: A broad differential diagnosis is emerging for individuals presenting with features suggestive of altered connective tissue. Recent advances in molecular genetics have aided in the delineation of these disorders.",
keywords = "aneurysm, aorta, connective tissue, dissection, vascular disease",
author = "Maureen Murphy-Ryan and Apostolos Psychogios and Lindor, {Noralane Morey}",
year = "2010",
month = "6",
doi = "10.1097/GIM.0b013e3181e074f0",
language = "English (US)",
volume = "12",
pages = "344--354",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "6",

}

TY - JOUR

T1 - Hereditary disorders of connective tissue

T2 - A guide to the emerging differential diagnosis

AU - Murphy-Ryan, Maureen

AU - Psychogios, Apostolos

AU - Lindor, Noralane Morey

PY - 2010/6

Y1 - 2010/6

N2 - Purpose: To create a practical desk reference for clinicians focused on the differential diagnosis of individuals presenting with features that suggest an inherited disorder of connective tissue. Methods: We searched the medical literature for distinct clinical entities that shared clinical features with Marfan syndrome and other classical inherited disorders of connective tissue. Results: Thirty-six distinct heritable disorders of connective tissue were identified that have overlapping features. These disorders were organized into two matrices according to clinical characteristics and according to causative genes. Conclusions: A broad differential diagnosis is emerging for individuals presenting with features suggestive of altered connective tissue. Recent advances in molecular genetics have aided in the delineation of these disorders.

AB - Purpose: To create a practical desk reference for clinicians focused on the differential diagnosis of individuals presenting with features that suggest an inherited disorder of connective tissue. Methods: We searched the medical literature for distinct clinical entities that shared clinical features with Marfan syndrome and other classical inherited disorders of connective tissue. Results: Thirty-six distinct heritable disorders of connective tissue were identified that have overlapping features. These disorders were organized into two matrices according to clinical characteristics and according to causative genes. Conclusions: A broad differential diagnosis is emerging for individuals presenting with features suggestive of altered connective tissue. Recent advances in molecular genetics have aided in the delineation of these disorders.

KW - aneurysm

KW - aorta

KW - connective tissue

KW - dissection

KW - vascular disease

UR - http://www.scopus.com/inward/record.url?scp=77953960235&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77953960235&partnerID=8YFLogxK

U2 - 10.1097/GIM.0b013e3181e074f0

DO - 10.1097/GIM.0b013e3181e074f0

M3 - Article

C2 - 20467323

AN - SCOPUS:77953960235

VL - 12

SP - 344

EP - 354

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 6

ER -