Improving Clinical Recognition of Marfan Syndrome

Sponseller, Paul D.; Erkula, Gürkan; Skolasky, Richard L.; Venuti, Kristen D.; Dietz, Harry C.

doi:10.2106/jbjs.i.00892

Cited by 32 publications

(32 citation statements)

References 20 publications

(2 reference statements)

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“…Wrist sign, flat feet, and pectus deformity were the signs with the greatest sensitivity after the age of 10, because they have been reported in adults. 18 Before 10 years of age, hypermobility and thumb sign were more discriminating. The difference in arm span/height ratio between the MFS and the non-MFS groups is too small to be clinically useful, although statistically significant.…”

Section: Discussionmentioning

confidence: 95%

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Stheneur

Tubach

Jouneaux

et al. 2014

Genetics in Medicine

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Section: Discussionmentioning

confidence: 95%

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Stheneur

Tubach

Jouneaux

et al. 2014

Genetics in Medicine

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“…Hypermobility also was more prevalent in the bronchiectasis group as compared with population estimates (45). While a positive wrist sign and high-arched palate were seen more often in the bronchiectasis group than in the general population, the thumb sign reflected population estimates (38). Positive wrist sign tended to be present more often in the women with bronchiectasis subgroup than in men with bronchiectasis (P = 0.091).…”

Section: Demographicsmentioning

confidence: 87%

“…Fingers disproportionately long as compared with the palm of the hand were assessed by the (Walker) wrist sign and the (Steinberg) thumb sign (24,38). A high-arched palate was present when the maximum palate height was greater than twice the height of the teeth (39).…”

Section: Determination Of Phenotypic Featuresmentioning

confidence: 99%

Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants

Daniels¹,

Birchard

Lowe

et al. 2016

Annals ATS

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Rationale: Patients with idiopathic bronchiectasis are predominantly female and have an asthenic body morphotype and frequent nontuberculous mycobacterial respiratory infections. They also demonstrate phenotypic features (scoliosis, pectus deformity, mitral valve prolapse) that are commonly seen in individuals with heritable connective tissue disorders.Objectives: To determine whether lumbar dural sac size is increased in patients with idiopathic bronchiectasis as compared with control subjects, and to assess whether dural sac size is correlated with phenotypic characteristics seen in individuals with heritable connective tissue disorders.Methods: Two readers blinded to diagnosis measured anteriorposterior and transverse dural sac diameter using L1-L5 magnetic resonance images of 71 patients with idiopathic bronchiectasis, 72 control subjects without lung disease, 29 patients with cystic fibrosis, and 24 patients with Marfan syndrome. We compared groups by pairwise analysis of means, using Tukey's method to adjust for multiple comparisons. Dural sac diameter association with phenotypic and clinical features was also tested. Measurements and Main Results:The L1-L5 (average) anterior-posterior dural sac diameter of the idiopathic bronchiectasis group was larger than those of the control group (P , 0.001) and the cystic fibrosis group (P = 0.002). There was a strong correlation between increased dural sac size and the presence of pulmonary nontuberculous mycobacterial infection (P = 0.007) and long fingers (P = 0.003). A trend toward larger dural sac diameter was seen in those with scoliosis (P = 0.130) and those with a family history of idiopathic bronchiectasis (P = 0.149).Conclusions: Individuals with idiopathic bronchiectasis have an enlarged dural sac diameter, which is associated with pulmonary nontuberculous mycobacterial infection, long fingers, and family history of idiopathic bronchiectasis. These findings support our hypothesis that "idiopathic" bronchiectasis development reflects complex genetic variation in heritable connective tissue and associated transforming growth factorb-related pathway genes.Keywords: bronchiectasis; nontuberculous mycobacteria; heritable connective tissue disorders; dural sac diameter Correspondence and requests for reprints should be addressed to M.

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“…3 In rare cases, PE can signal the presence of an underlying connective tissue disorder, such as Marfan syndrome 4 or Loeys-Dietz syndrome. 5 Recognizing PE as a sign of these serious pathologies is critical because they put patients at risk for serious complications, such as aortic aneurysms, aortic dissection, or both.…”

mentioning

confidence: 99%

Pectus Excavatum: More Than a Matter of Aesthetics

Harris

2016

Pediatr Ann

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Pectus excavatum (PE) is the most common congenital chest abnormality, and affects males 5 times more frequently than females. PE results from improper fusion of the ribs with the sternum during embryologic development. The cardinal presenting sign is chest depression. Evaluation includes serial measurement of the chest deformity defect. Additional evaluation of cardiopulmonary function, including arrhythmias and pulmonary function tests, should be done as well. Computed tomography scans are used to determine the Haller index, a measure of deformity severity, with a measurement of greater than 3.2 deemed severe. The main indication of repair is decreased cardiopulmonary capacity, not cosmetic. Surgical repair should be timed such that it occurs after the pediatric growth spurt. Generally, the Nuss procedure, which is minimally invasive, is the first-line surgical repair. Ravitch, or open repair, is used for more complex or asymmetric deformities. [Pediatr Ann. 2016;45(11):e403-e406.]

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Improving Clinical Recognition of Marfan Syndrome

Abstract: Diagnostic Level II. See Instructions to Authors for a complete description of levels of evidence.

Cited by 32 publications

References 20 publications

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants

Pectus Excavatum: More Than a Matter of Aesthetics

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