Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns

Higurashi, Makoto; Oda, Masaaki; Iijima, Kazuhiko; Iijima, Sumio; Takeshita, Tatsuya; Watanabe, Nobuo; Yoneyama, Kuniyoshi

doi:10.1016/s0387-7604(12)80004-0

Cited by 93 publications

(65 citation statements)

References 5 publications

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“…Of the 25 traits used to draw up the clinical picture of TRS21 (Jackson et al 1976 ), intellectual disability is therefore the only one with near-complete penetrance (Antonarakis et al 2004 ;Grieco et al 2015 ), which makes the discovery of chromosome 21 (HSA21) genes associated with ID the main challenge of research on TRS21. It is difficult to identify the HSA21 genes with their triple copy being associated with ID because of the small number of segmental trisomies (Higurashi et al 1990 ;Poissonnier et al 1976 ). Another difficulty is the heterogeneity of the cognitive profile as some cognitive processes are strongly impacted while others are less impaired (Chapman and Hesketh 2001 ;Lavenex et al 2015 ;Patterson et al 2013 ;Vicari and Carlesimo 2006 ).…”

Section: Introductionmentioning

confidence: 99%

Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice

et al. 2017

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Section: Introductionmentioning

confidence: 99%

Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice

et al. 2017

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“…9,10 The incidence of KTS, which is usually diagnosed at birth or shortly thereafter, has been documented in 3 different studies. Consequently, we tested the risk of KTS in each of the 3 populations, 1 in 14 430, 11 1 in 27 472, 12 and 1 in 100 038, 13 as well as their average, 1 in 47 313, in our analysis.…”

Section: Discussionmentioning

confidence: 99%

Wilms Tumor Screening Is Unnecessary in Klippel-Trenaunay Syndrome

Greene¹,

Kieran

Burrows³

et al. 2004

Pediatrics

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ABSTRACT. Background. Children with hemihypertrophy are screened for Wilms tumor, because this condition is a risk factor for developing the neoplasm. Patients with Klippel-Trenaunay syndrome (KTS) are often considered potential candidates for Wilms tumor, because they have unilateral overgrowth of the lower limb. In our experience, however, an association between KTS and Wilms tumor has not been observed.Methods. To determine whether KTS and Wilms tumor are associated, we reviewed our institutional experience for patients with both diagnoses and searched the Klippel-Trenaunay literature for patients with Wilms tumor. The National Wilms Tumor Study Group database also was studied to identify patients with KTS. Twosided exact binomial tests were used to evaluate whether patients with 1 condition had an increased risk for the other. Ninety-five percent confidence intervals for these 2 risks were compared with the general population risks of Wilms tumor (1 in 10 000) and KTS (1 in 47 313). Results. None of the 115 patients with KTS followed at our institution developed Wilms tumor. One case of Wilms tumor has been reported in 1363 patients

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“…Additional research is required to determine whether this important distinction is best conceptualized in terms of sub-types or in terms of a continuum of severity. Prevalence is about 1 in every 50,000 to 1 in every 37,000 live births [3,4]. Perhaps because of its relatively low prevalence, the cri-du-chat syndrome has received relatively little attention from rehabilitation researchers and professionals.…”

Section: Cri-du-chatmentioning

confidence: 99%