Down syndrome and associated congenital malformations

2003 ◽  
pp. 207-214 ◽  
Author(s):  
B. L. Shapiro
Keyword(s):  
Down Syndrome ◽  
Congenital Malformations

Autosomal Trisomies: What Neonatal Nurses Need to Know

1999 ◽  
Vol 18 (8) ◽  
pp. 7-15 ◽  
Author(s):  
Ann Cox
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Congenital Malformations ◽  
Chromosomal Abnormalities ◽  
Trisomy 13 ◽  
Neonatal Nurses ◽  
Patau Syndrome ◽  
Edwards Syndrome ◽  
Major Congenital Malformations ◽  
Associated Abnormalities

Autosomal trisomies are associated with major congenital malformations that may result in prolonged hospitalization of the newborn. Knowledge about these chromosomal abnormalities is important for nurses in neonatal practice. This article identifies the causes and manifestations of most of these trisomies: trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome). More detailed description of the manifestations, associated abnormalities, and outcomes of the most common of these, trisomy 21, is provided.

scholarly journals Down syndrome with Disorder of Sex development (DSD): A Rare Presentation

2020 ◽  
Vol 44 (1) ◽  
pp. 48-51
Author(s):  
Farzana Sharmin ◽  
Suraiya Begum ◽  
Ismat Jahan ◽  
Roksana Parvin ◽  
Dhiraj Chandra Biswas
Keyword(s):  
Down Syndrome ◽  
Child Health ◽  
Congenital Malformations ◽  
Social Cost ◽  
Genetic Disorder ◽  
Rare Presentation ◽  
Disorder Of Sex Development ◽  
Rare Association ◽  
Sex Development ◽  
Common Genetic Disorder

Down syndrome is the most common genetic disorder among live born infants, which is associated with a number of congenital malformations and requires a huge medical and social cost. Here, we report a very rare association in an infant with Down syndrome and XY disorder of sex development (DSD). Bangladesh J Child Health 2020; VOL 44 (1) :48-51

scholarly journals Pattern of Congenital Heart Diseases in Children with Congenital Malformations: An Echocardiographic study from a Tertiary Health facility in Sokoto, Nigeria

2021 ◽  
Vol 4 (7) ◽  
pp. 01-06
Author(s):  
Isezuo KO
Keyword(s):  
Down Syndrome ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Statistical Significance ◽  
Congenital Heart Diseases ◽  
Cardiac Murmur ◽  
Cross Sectional ◽  
Ocular Abnormalities

Background: Children with congenital malformations (CM) may have congenital heart diseases (CHDs) which may be initially asymptomatic. These need to be recognised and managed early in order to reduce unnecessary morbidity in affected patients. We report the pattern of CHDs in children with congenital malformations who had echocardiography over a one year period in UDUTH, Sokoto. Materials and Methods: A cross-sectional study carried out in the Paediatric Cardiology Unit from 1st January to 31st December 2019. Children presenting with CM were recruited and had echocardiagraphic screening for CHDs. Data were analysed with SPSS 23 version. Statistical significance was taken at p < 0.05. Results: 81 children were seen with CM, comprising 42 females and 39 males (M:F=0.93:1); age range of 2 days to 13 years. Most frequent malformationswere anorectal malformations (ARM) in 28 (34.6%), Down syndrome in 17 (21.0%), multiple CM 10 (8.1%) and ocular abnormalities in 4 (4.9%). Thirty two (39.5%) of the patients with CM were diagnosed with CHD, out of which 24 (29.6%) had cardiac murmur. Most frequent CHD was atrioventricular septal defect in 9 (28.1%) followed by ventricular septal defect in 8 (25.0%) and patent arterial duct in 4 (12.5%). CHDs were found in all (100%) those with ocular abnormalities, in 76.5% of Down syndrome and in 14.3% of patients with ARM. Presence of murmur was significantly associated with CHD (χ2=18.0; p=0.001; OR=8.2; 95% C.1=2.8 – 24.1). Conclusion: Congenital malformations, particularly Down syndrome and ocular abnormalities, are significantly associated with CHDs. Cardiac murmurs were suggestive of CHD in children with congenital malformations.

Major congenital malformations in Down syndrome

1996 ◽  
Vol 65 (2) ◽  
pp. 160-166 ◽  
Author(s):  
Bengt Källén ◽  
Pierpaolo Mastroiacovo ◽  
Elisabeth Robert
Keyword(s):  
Down Syndrome ◽  
Congenital Malformations ◽  
Major Congenital Malformations

DECREASING INCIDENCE OF SPINA BIFIDA AND ANENCEPHALY

PEDIATRICS ◽  
1985 ◽  
Vol 75 (6) ◽  
pp. 1064-1064
Keyword(s):  
Down Syndrome ◽  
Spina Bifida ◽  
Congenital Malformations ◽  
Maternal Age ◽  
Notification Rate ◽  
England And Wales ◽  
Younger Women ◽  
Shaped Graph

The notification of congenital malformations in England and Wales is voluntary, and from time to time some malformations become foci of attention because, for example, a preventive programme shows promises of success, surgeons begin to offer a treatment not previously available, or diagnosis improves. The notification rate was 220.8 per 10,000 in total births in 1983, almost 5% up on the previous year and the highest in the decade 1974 to 1983. The cause may be disputed but there is no doubting the decline in incidence of spina bifida, down to 6.7 per 10,000 last year from 18.3 in 1974, while the rate for anencephalus fell from 13.1 to 1.8 per 10,000 over the decade. Age-specific rates for individual malformations year by year are not provided but an impact of screening for Down syndrome is not discernible. The U-shaped graph of maternal age against malformation rate is defied by Down syndrome and the rate for women aged 45 or more is ten times that for women aged 30-34—but there were only 7 Down syndrome births in the oldest groups compared with 130 in the younger women. A preventive programme restricted to but 100% effective in women aged 35 or more would have prevented the births of only 27% of Down syndrome babies.

Increased Incidence of Extrathyroidal Congenital Malformations in Japanese Patients with Congenital Hypothyroidism and Their Relationship with Down Syndrome and Other Factors

Thyroid ◽  
2009 ◽  
Vol 19 (8) ◽  
pp. 869-879 ◽  
Author(s):  
Yan-Hong Gu ◽  
Shohei Harada ◽  
Tadaaki Kato ◽  
Hiroaki Inomata ◽  
Kikumaro Aoki ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Congenital Hypothyroidism ◽  
Congenital Malformations ◽  
Japanese Patients

Alopecia areata and Down syndrome

1976 ◽  
Vol 112 (10) ◽  
pp. 1397-1399 ◽  
Author(s):  
D. M. Carter
Keyword(s):  
Down Syndrome ◽  
Alopecia Areata
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