Authors :
Dr. Sachin Padman; Dr. Kusuma Sachin; Dr. Venugopal Reddy I.
Volume/Issue :
Volume 9 - 2024, Issue 3 - March
Google Scholar :
https://tinyurl.com/4a5nnnk8
Scribd :
https://tinyurl.com/3aum39pr
DOI :
https://doi.org/10.38124/ijisrt/IJISRT24MAR2090
Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.
Abstract :
Down syndrome, also known as trisomy 21, is
a common chromosomal disorder that affects one in
every 750/1000 live births. It is characterized by delayed
milestones and repeated chest infections, with most
children having microcephaly, low set ears, flat nasal
bridge, simian crease, umbilical hernia, CVS findings,
and repeated ear infections. The risk of Down syndrome
increases to 1:20 for mothers over 40 years old. A study
examined 30 children with phenotype suggestive of
Down syndrome, with a male to female ratio of 0.76:1.
The median age at presentation was 7 years, with a
minimum of 3 years and a maximum of 12 years. The
mean maternal age at child birth was 32 years, with
13.3% of the children born out of consanguineous
marriage.
The study found that none of the mothers had a
history of abortions, and 6.7% had complications
during pregnancy. The most common complaint was
delay in attainment of mile stones (96.7%) followed by
recurrent LRTI & URTI (13.2%), with 2 having heart
disease and 1 having family history of asthma.
Physical characteristics included microcephaly
(86.7%), low set ears, a flat nasal bridge (96.7%), half of
the children had simian crease and umbilical hernia
(50%), excessive skin on the back (76.7%), muscular
hypotonia (66.7%), dermatoses (26.7%), and
hypothyroidism (10%). Cerebral findings were found in
15 children (50%), with endocardial cushion defects
being the most common. ASD (13.04%) was most
common in 12 children, followed by VSD (10.86%), and
PDA (4.3%) was present in 4.3%.
Keywords :
Down Syndrome, Abortions, Heart, Diseases, Hypothyroidism.
Down syndrome, also known as trisomy 21, is
a common chromosomal disorder that affects one in
every 750/1000 live births. It is characterized by delayed
milestones and repeated chest infections, with most
children having microcephaly, low set ears, flat nasal
bridge, simian crease, umbilical hernia, CVS findings,
and repeated ear infections. The risk of Down syndrome
increases to 1:20 for mothers over 40 years old. A study
examined 30 children with phenotype suggestive of
Down syndrome, with a male to female ratio of 0.76:1.
The median age at presentation was 7 years, with a
minimum of 3 years and a maximum of 12 years. The
mean maternal age at child birth was 32 years, with
13.3% of the children born out of consanguineous
marriage.
The study found that none of the mothers had a
history of abortions, and 6.7% had complications
during pregnancy. The most common complaint was
delay in attainment of mile stones (96.7%) followed by
recurrent LRTI & URTI (13.2%), with 2 having heart
disease and 1 having family history of asthma.
Physical characteristics included microcephaly
(86.7%), low set ears, a flat nasal bridge (96.7%), half of
the children had simian crease and umbilical hernia
(50%), excessive skin on the back (76.7%), muscular
hypotonia (66.7%), dermatoses (26.7%), and
hypothyroidism (10%). Cerebral findings were found in
15 children (50%), with endocardial cushion defects
being the most common. ASD (13.04%) was most
common in 12 children, followed by VSD (10.86%), and
PDA (4.3%) was present in 4.3%.
Keywords :
Down Syndrome, Abortions, Heart, Diseases, Hypothyroidism.
