Severe connective tissue laxity including aortic dilatation in Sotos syndrome

Hood, Rebecca L.; McGillivray, George; Hunter, Matthew F.; Roberston, Stephen P; Bulman, Dennis E.; Boycott, Kym M.; Stark, Zornitza

doi:10.1002/ajmg.a.37402

Cited by 10 publications

(7 citation statements)

References 7 publications

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“…Four individuals had dilatation of the aortic root or ascending aorta (table 1). However, in two of these individuals (COG1878 and COG1918) the dilatation had resolved by their 30s/40s and the third individual (COG0622, previously reported by Robertson and Bankier aorta for which he was treated with prophylactic beta blocker therapy (Hood et al, 2016).…”

Section: Aortic Dilatationmentioning

confidence: 80%

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

Foster

Zachariou

Loveday

et al. 2019

American J of Med Genetics Pt C

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Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17 years since disruption of NSD1 was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 SD and men +0.5 SD. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals.

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Section: Aortic Dilatationmentioning

confidence: 80%

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

Foster

Zachariou

Loveday

et al. 2019

American J of Med Genetics Pt C

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“…In conclusion, we demonstrated that the prevalence of aortic dilatation in Sotos syndrome might be likely underestimated, as screening echocardiograms may not be routinely performed in Sotos patients in the absence of cardiac signs or symptoms. Although in the reported patients (Foster et al, 2019; Hood et al, 2016) the aortic dilatation seems non‐progressive, one of our pediatric patients showed slow but progressive dilation now requiring prophylactic medical therapy.…”

Section: Patients Cases Of the Present Report Hood Et Al 2016 Fostmentioning

confidence: 59%

“…Hood et al (2016) reported the molecular confirmation of Sotos syndrome of the three patients previously reported by Robertson, and added a new individual showing the same clinical features. A 5‐year follow‐up documented the persistence and the stability of the mild but diffuse dilation in the two patients (PATIENT 1 and PATIENT 3, see Table 1) previously reported by Robertson (Robertson and Bankier, 1999), and it is stated that prophylactic beta blocker therapy was started on an empirical basis.…”

Section: Patients Cases Of the Present Report Hood Et Al 2016 Fostmentioning

confidence: 72%

“…In the first years of life a collagenopathy was actually suspected also in P5, due to his cardiovascular features. Similarly, SNP array, Sanger sequencing of the TGFBR1 and TGFBR2 genes, and subsequent Whole Exome Sequencing analysis had been performed in Patient 3 by Hood et al (2016), with no detection of pathogenic variants in other genes.…”

Section: Patients Cases Of the Present Report Hood Et Al 2016 Fostmentioning

confidence: 99%

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Aortic dilation in Sotos syndrome: An underestimated feature?

Pezzani

Mauri

Selicorni

et al. 2020

American J of Med Genetics Pt A

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“…Although patients with Sotos syndrome may have mild connective tissue anomalies, such as joint hyperextensibility and pes planus , cutis laxa has rarely been reported. It was not mentioned in a review of 266 patients with pathogenic NSD1 mutations , although transient cutis laxa (redundant skin folds) in the neonatal period has previously been reported in four patients with Sotos syndrome, truncating mutations in NSD1 , and various other signs of connective tissue involvement joint hypermobility, vesicoureteric reflux, aortic root dilatation . Another boy with a different truncating NSD1 mutation had cutis laxa at birth that had resolved at 4 months .…”

Section: Brief Reportmentioning

confidence: 99%