Associated congenital anomalies among cases with Down syndrome

Stoll, Claude; Dott, B; Alembik, Yves; Roth, Marie‐Paule

doi:10.1016/j.ejmg.2015.11.003

Cited by 189 publications

(178 citation statements)

References 18 publications

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“…The British Society for Surgery of the Hand recommends early paediatric assessment because around 20% of cases are associated with a genetic disorder, syndrome, or other congenital abnormality, including acrocephalopolysyndactyly syndrome, Fanconi anaemia, Down’s syndrome, Holt-Oram syndrome, short ribs polydactyly syndrome, and VACTERL association 23456…”

Section: Answermentioning

confidence: 99%

A child with a congenital hand anomaly

Wright

Khandwala

2019

BMJ

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Section: Answermentioning

confidence: 99%

A child with a congenital hand anomaly

Wright

Khandwala

2019

BMJ

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“…Our hypothesis was that the prevalence of club foot is higher in 22q11.2DS as compared to the general population. Moreover, since scoliosis within 22q11.2DS is not associated with CHD and the prevalence of club foot is increased in other syndromes (e.g., Down Syndrome) we hypothesized that the club foot within 22q11.2DS is not associated with CHD and/or cleft palate (Homans et al, 2018; Stoll, Dott, Alembik, & Roth, 2015). …”

Section: Introductionmentioning

confidence: 99%

Club foot in association with the 22q11.2 deletion syndrome: An observational study

Homans

Crowley

Chen

et al. 2018

American J of Med Genetics Pt A

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The 22q11.2 Deletion Syndrome (22q11.2DS) occurs in ~1:3,000–6,000 individuals. Features less typically associated with 22q11.2DS, such as orthopedic manifestations, may be overlooked or may not lead to appropriate diagnostic testing. Club foot has a general population prevalence of ~1:1,000 and has been occasionally described in association with 22q11.2DS. Our hypothesis is that the prevalence of club foot is higher in patients with 22q11.2DS. We performed a retrospective review in two specialized 22q11.2DS centers to determine the prevalence of club foot. “True club foot” requires treatment (either conservative or surgical), therefore we only included those patients with proof of treatment. We investigated whether congenital heart disease (CHD) and/or cleft palate were associated with the presence of club foot within 22q11.2DS. The records of 1,466 patients were reviewed. Of these, 48 (3.3%) had confirmation of club foot (95% Confidence Interval: 2.4–4.3): 22 (46%) had a bilateral, 12 (25%) left, and 14 (29%) right club foot. Within our study, neither a CHD and/or a cleft palate were associated with a club foot. The prevalence of club foot in 22q11.2DS is 30 times higher than that observed in the general population. This suggests the diagnosis of club foot, especially in the face of other typically associated abnormalities of 22q11.2DS, should provoke consideration of 22q11.2DS as an underlying diagnosis, particularly in the neonatal setting.

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“…Thus, it is unclear whether the decreased rate of AVSD among livebirths was due to increased pregnancy terminations or a change in the true occurrence of CHDs in all fetuses with DS. However, a French study by Stoll et al 4 of all outcomes from DS-affected pregnancies over 26 years revealed a similar distribution of AVSD (30%) among those with CHDs, but did not investigate changes over time. 4 …”

mentioning

confidence: 96%

“…However, a French study by Stoll et al 4 of all outcomes from DS-affected pregnancies over 26 years revealed a similar distribution of AVSD (30%) among those with CHDs, but did not investigate changes over time. 4 …”

mentioning

confidence: 96%

“…2, 3 Approximately half of all infants born with DS also have a congenital heart defect (CHD), the most common type being atrioventricular septal defect (AVSD), with rates from 30% to 60%. 4 In the era of increasing maternal age and pregnancy terminations, 2 it is interesting to investigate if and how the pattern of associated CHDs among infants with DS has changed.…”

mentioning

confidence: 99%

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