Down's
Syndrome
INTRODUCTION
Robert
is a 3-year-old Chinese boy with a past history of Down�s syndrome now
admitted for an operation for closure of an atrial septal defect.
PAST
MEDICAL HISTORY
Robert
does not have signs of congestive heart failure such as failure to thrive and
poor feeding. He was admitted for multiple episodes of bronchiolitis, but they
usually resolve with no further sequelae.
Robert
was diagnosed to have Down�s syndrome on day 5 of birth by chromosomal
karyotyping.
He
was found to have a secundum atrial septal defect. There are no other medical
problems or abnormalities.
His
mother is 40 years old when she was pregnant with Robert. No amniocentesis was
done. Robert is a full-term baby and is delivered by normal vaginal delivery.
There were no antenatal, perinatal or postnatal complications.
Robert
has mental retardation. His gross and fine motor functions are normal. He is not
attending any special schools at the moment.
FAMILY
AND SOCIAL HISTORY
Robert
is the only child in the family. His father is 46 years old. His father is a
general manager and his mother is a housewife. The family has no financial
problems in paying for Robert�s family expenses. His mother refused to talk
about her thoughts, feelings and concerns of his son�s present state and his
future.
CLINICAL
EXAMINATION
General
inspection
The
following features of Down�s syndrome are present:
Mental
state: alert and playing with himself, not responsive to speech and appears
unaware of the surroundings.
Craniofacies:
�
Mongoloid facies.
�
Bradycephaly (flat
occiput)
�
Low hair line.
�
Soft hair / alopecia.
Eyes:
�
Oblique palpebral
fissures.
�
Prominent epicanthal
folds.
�
Hypertelorism.
Nose:
flattened nasal bridge.
Ears:
�
Prominent malformed
ears.
�
Low set ears.
�
Small ears.
Mouth:
�
High arched palate.
�
Small teeth and poor
dentition.
Neck:
broad short neck.
Hands:
�
Short broad hands:
spade-like.
�
Simian crease.
�
Short stumpy fingers.
�
Clinodactyly.
Feet:
gap between first and second tone.
Parameters:
within 50 � 75th
percentile of the age group.
Vital
signs
Respiratory
rate: 30 bpm.
Pulse
rate: 110 bpm.
Temperature:
36.7C
Blood
pressure: 120 / 90 mmHg.
Systemic
review
CVS:
�
Heart sounds 1 and 2
are heard.
�
Fixed splitting of
S2.
�
No gallop or third
heard sound heard.
�
An ejection systolic
murmur of grade 3/6 was heard loudest along the left sternal edge radiating
towards the carotids.
Examination
of other systems is unremarkable. There are no other associated diseases such as
hypothyroidism, diabetes mellitus, leukaemia or thrombocytopenia.