- Summers K.M.
- West J.A.
- Peterson M.M.
- Stark D.
- McGill J.J.
- West M.J.
Materials and Methods
Aneurysms, aortic abdominal
Arterial tortuosity syndrome
Bicuspid aortic valve with thoracic aortic aneurysm
- Davies R.R.
- Kaple R.K.
- Mandapati D.
- Garg V.
- Muth A.N.
- Ransom J.F.
- Tadros T.M.
- Klein M.D.
- Shapiro O.M.
Congenital contractural arachnodactyly
- Frédéric M.Y.
- Monino C.
- Marschall C.
Cutis laxa, autosomal dominant
Cutis laxa, autosomal recessive type I
Cutis laxa autosomal recessive Type II
Cutis laxa, X-linked
Ectopia lentis, familial
Ehlers-Danlos syndrome, arthrochalasia type (EDS type VIIA, VIIB)
Ehlers-Danlos syndrome, cardiac valvular type
- Malfait F.
- Symoens S.
- Coucke P.
- Nunes L.
- De Almeida S.
- De Paepe A.
Ehlers-Danlos syndrome, classical type (EDS type I, II)
Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)
- Malfait F.
- De Coster P.
- Hausser I.
Ehlers-Danlos syndrome, kyphoscoliotic type (EDS type VI)
Ehlers-Danlos syndrome, progeroid type
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Ehlers-Danlos syndrome, vascular type (EDS type IV)
- Germain D.P.
Ehlers-Danlos-like syndrome, tenascin X deficiency
- Voermans N.C.
- van Alfen N.
- Pillen S.
Familial thoracic aneurysm and/or dissection
- Vaughan C.
- Casey M.
- He J.
LH3 deficiency syndrome
- Lerma-Carrillo I.
- Molina J.D.
- Cuevas-Duran T.
MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis)
- Comeglio P.
- Johnson P.
- Arno G.
Mitral valve prolapse syndrome
Persistent patent ductus arteriosis with familial thoracic aneurysm
- van Steensel M.A.
- van Geel M.
- Parren L.J.
- Schrander-Stumpel C.T.
- Marcus-Soekarman D.
- Kosaki K.
- Takahashi D.
- Udaka T.
- Faivre L.
- Dollfus H.
- Lyonnet S.
- Kojuri J.
- Razeghinejad M.R.
- Aslani A.
- Evaluation by an ophthalmologist with knowledge of disorders of connective tissue to assess abnormalities of the lens, retina, vitreous, and refraction.
- Radiographic imaging, including transthoracic or esophageal echocardiography, with careful, serial measurements of the aortic root at the level of the sinuses of Valsalva to compare with normal references for age and/or body mass index and evaluation of the aortic arch.
- CT or MR angiogram of the cerebral, neck, thoracic, abdominal, and pelvic arteries. An abnormality such as dissection, dilation, tortuosity, or aneurysm in any one artery should prompt a systematic assessment of all major arteries.
- A skeletal survey that may help evaluate underlying skeletal dysplasia, acetabular abnormalities, hyperostosis, or osteopenia.
- A bone densitometry study may be useful for identifying osteopenia.
- Special spine films, to help accurately diagnose the degree of any scoliosis.
- Brain imaging that may be indicated in individuals with neurologic signs or symptoms but not usually in individuals lacking such neurological features.
- Audiologic assessment, recommended when disorders with hearing loss are included in the differential diagnosis list.
- Clinical molecular testing when available for genes included in Table 2 (Supplemental Digital Content 2, http://links.lww.com/GIM/A112) associated with the disorders under consideration in the differential diagnosis. Current information on test availability and links to the laboratories offering testing can be found at Genetests.org.
- The Marfan syndrome: diagnosis and management.N Engl J Med. 1979; 300: 772-777
- Challenges in the diagnosis of Marfan syndrome.Med J Aust. 2006; 184: 627-631
- Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders.Circulation. 2008; 118: 785-791
- Ehlers-Danlos syndromes and Marfan syndrome.Best Pract Res Clin Rheumatol. 2008; 22: 165-189
- Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.J Hum Genet. 2007; 52: 1-12
- Fibulins: physiological and disease perspectives.EMBO Rep. 2003; 4: 1127-1131
- The ADAMTS metalloproteinases.Biochem J. 2005; 386: 15-27
- Fibrillin-1 misfolding and disease.Antioxid Redox Signal. 2006; 8: 338-346
- Familial abdominal aortic aneurysms: collection of 233 multiplex families.J Vasc Surg. 2003; 37: 340-345
- Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.Clin Genet. 2008; 74: 189-193
- A novel missense and recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.Atherosclerosis. 2009; 203: 466-471
- Natural history of ascending aortic aneurysm in the setting of an unreplaced bicuspid aortic valve.Ann Thorac Surg. 2007; 83: 1338-1344
- Mutations in NOTCH1 cause aortic valve disease.Nature. 2005; 437: 270-274
- Molecular genetics of aortic valve disease.Curr Opin Cardiol. 2006; 21: 180-184
- Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.J Thorac Cardiovasc Surg. 2007; 134: 290-296
- Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications.Circulation. 2009; 119: 880-890
- Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.J Med Genet. 2006; 43: 1-11
- A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.Am J Hum Genet. 2006; 79: 935-941
- Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.Am J Hum Genet. 1996; 59: 1027-1034
- Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.Hum Mutat. 2009; 30: 334-341
- The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.Hum Mutat. 2009; 30: 181-190
- FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.Am J Med Genet A. 2007; 143: 694-698
- Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.Am J Med Genet A. 2008; 146A: 977-983
- A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.Arch Dermatol. 2004; 140: 1135-1139
- Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.J Med Genet. 2006; 43: 255-258
- Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.Am J Hum Genet. 2006; 78: 1075-1080
- Autosomal recessive cutis laxa syndrome revisited.Eur J Hum Genet. 2009; 17: 1099-1100
- Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.Eur J Hum Genet. 2008; 16: 28-35
- Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.Am J Hum Genet. 2009; 85: 120-129
- Mutations in PYCR1 cause cutis laxa with progeroid features.Nat Genet. 2009; 41: 1016-1021
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.Nat Genet. 2008; 40: 32-34
- Null mutations in LTBP2 cause primary congenital glaucoma.Am J Hum Genet. 2009; 84: 664-671
- A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.Am J Hum Genet. 2009; 84: 274-278
- Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.Circulation. 2009; 120: 2541-2549
- Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.Am J Med Genet. 1997; 72: 94-105
- Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.Am J Hum Genet. 2004; 74: 917-930
- Total absence of the alpha2(1) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.J Med Genet. 2006; 43: E36
- Molecular genetics in classics Ehlers-Danlos Syndrome.Am J Med Genet C Semin Med Genet. 2005; 139C: 17-23
- Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).Am J Med Genet. 1998; 77: 31-37
- The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).Am J Med Genet A. 2004; 131: 18-28
- Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.J Invest Dermatol. 2004; 123: 656-663
- Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).Neuromuscul Disord. 2008; 18: 906-907
- Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI).Neuromuscul Disord. 2008; 18: 210-214
- A case of Ehlers Danlos syndrome type VI.Genet Couns. 2006; 17: 291-294
- The congenital disorders of glycosylation are clinical chameleons.Eur J Hum Genet. 2008; 16: 2-4
- A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.Am J Med Genet A. 2004; 128A: 39-45
- Spondylocheiro dysplastic form of the Ehlers-Danlos Syndrome—an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.Am J Hum Genet. 2008; 82: 1290-1305
- Clinical and genetic features of vascular Ehlers-Danlos syndrome.Ann Vasc Surg. 2002; 16: 391-397
- Stickler syndrome type 2 and linkage to the COL11A1 gene.Ann N Y Acad Sci. 1996; 785: 331-332
- Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.Eur J Hum Genet. 2009; 17: 1411-1416
- Aneurysm syndromes caused by mutations in the TGF-beta receptor.N Engl J Med. 2006; 355: 788-798
- Neuromuscular involvement in various types of Ehlers-Danlos syndrome.Ann Neurol. 2009; 65: 687-697
- Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome.Am J Med Genet C Semin Med Genet. 2005; 139C: 24-30
- A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.N Engl J Med. 2001; 345: 1167-1175
- Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome.Am J Med Genet A. 2005; 135: 75-80
- Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder.Circulation. 2001; 103: 2469-2475
- Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.Nat Genet. 2007; 39: 1488-1493
- Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.J Med Genet. 2009; 46: 607-613
- Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.Annu Rev Genomics Hum Genet. 2008; 9: 283-302
- Orthopaedic aspects of fragile-X syndrome.J Bone Joint Surg Am. 1990; 72: 889-896
- Aspects of skeletal development in fragile X syndrome fetuses.Am J Med Genet. 2000; 95: 123-129
- Fragile X Syndrome.Eur J Hum Genet. 2008; 16: 666-672
- Classical homocystinuria: vascular risk and its prevention.J Inherit Metab Dis. 2003; 26: 259-265
- A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.Am J Hum Genet. 2008; 83: 495-503
- Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-receptor genes.Circ J. 2007; 71: 1305-1309
- Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.Am J Med Genet A. 2006; 140: 2807-2811
- Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).Orphanet J Rare Dis. 2006; 1: 26
- Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.Am J Med Genet A. 2003; 119A: 363-366
- The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.J Med Genet. 2007; 44: 472-477
- The mediator of RNA polymerase II.Chromosoma. 2005; 113: 399-408
- Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.Nat Genet. 2007; 39: 1127-1133
- RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.Am J Hum Genet. 2009; 85: 254-263
- Revised diagnostic criteria for the Marfan syndrome.Am J Med Genet. 1996; 62: 417-426
- The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.Hum Mutat. 2007; 28: 928
- Delineation of the Marfan phenotype associated with mutations in exons 23–32 of the FBN1 gene.Am J Med Genet. 1996; 62: 233-242
- Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.Clin Genet. 2001; 59: 444-450
- Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.Clin Genet. 2007; 72: 188-198
- Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum.JAMA. 1989; 262: 523-528
- Prevalence and clinical outcome of mitral-valve prolapse.N Engl J Med. 1999; 341: 1-7
- The genetics of mitral valve prolapse.Clin Genet. 2007; 72: 288-295
- Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.Eur J Hum Genet. 2004; 12: 173-180
- Mapping of familial thoracic aortic aneurysm/ dissection with patent ductus arteriosis to 16p12.2–p13.13.Circulation. 2005; 112: 200-206
- Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.Nat Genet. 2006; 38: 343-349
- Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct.Cardiol Young. 2007; 17: 666-672
- Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.Exp Dermatol. 2008; 17: 362-365
- Mutations in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.Nat Genet. 1996; 12: 209-211
- Molecular pathology of Shprintzen-Goldberg syndrome.Am J Med Genet A. 2006; 140: 104-108
- Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.Am J Med Genet A. 2005; 135: 251-262
- A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.Am J Med Genet A. 2009; 149A: 328-335
- X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.Eur J Hum Genet. 2003; 11: 937-944
- New SMS missense mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.J Med Genet. 2008; 45: 539-543
- The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.Genet Med. 2003; 5: 21-27
- Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.Eur J Hum Genet. 1999; 7: 807-814
- Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.Surv Opthalmol. 2003; 48: 191-203
- Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.J Pediatr. 1998; 132: 368-371
- ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.Am J Hum Genet. 2004; 75: 801-806
- Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.Am J Med Genet A. 2003; 123A: 204-207
- Cardiac findings in Weill-Marchesani syndrome.Am J Med Genet A. 2007; 143A: 2062-2064
- The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.Am J Med Genet A. 2008; 146A: 83-92
- Marfan's syndrome and related disorders—more tightly connected than we thought.N Engl J Med. 2006; 355: 841-844
- Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan?.J Thorac Cardiovasc Surg. 2008; 135: 389-394
User LicenseElsevier user license |
For non-commercial purposes:
- Read, print & download
- Text & data mine
- Translate the article
- Reuse portions or extracts from the article in other works
- Redistribute or republish the final article
- Sell or re-use for commercial purposes
Elsevier's open access license policy