Case Presentation
A 3-year-old female child was presented to the clinic with easy
fatigability, gross motor delay, low muscle tone, and flexible pes
planus. The parents have had concerns that she appears to have
difficulty keeping up with kids her age. The patient is otherwise
healthy, growing, and developing normally. The examination was performed
and revealed the following; on general examination, the patient was
pleasant and cooperative. The head was normocephalic with no dysmorphic
features. On the HEENT (head, eyes, ears, nose, and throat) exam, the
oropharynx was clear with moist mucous membranes. The neck was supple. A
cardiovascular exam revealed strong peripheral pulses with a brisk
capillary refill and normal breathing. The abdomen was soft with no
palpable masses. Extremities were warm and well perfused. Observational
gait analysis showed a heel-toe reciprocating gait with no deviations
noted and normal bulk. The tone was mildly reduced throughout. No
tremors or other abnormal movements were noted (Tables 1 &2).
An echocardiogram was done and revealed a patent foramen ovale (PFO)
with left-to-right shunting (Figure 1). Also, comparative genomic
hybridization (CGH) plus single nucleotide polymorphism (SNP) was
ordered, and the results demonstrated chromosome 2q37 deletion syndrome.
The patient was advised to have 2 sessions and a follow-up
echocardiogram for her abnormal motor delay. After one year of physical
therapy per week, which improved her hypotonia and gross motor delay.