This document summarizes a case study presentation on a 9-year old boy diagnosed with Apert Syndrome. Apert Syndrome is characterized by abnormal skull shape, eye abnormalities such as protruding eyes, fused fingers and toes. The boy presented with eye protrusion, eyelid swelling and incomplete eyelid closure. Examination found skull abnormalities, mental retardation, syndactyly of the hands and feet. Imaging found skull bone fusion abnormalities confirming Apert Syndrome. Early intervention is needed to address amblyopia and potential optic nerve damage from eye protrusion in Apert Syndrome patients.

1. 51st annual national conference of
Ophthalmological Society of
Bangladesh
Rapid fire Session
Welcome

2. “TO STUDY THE
ABNORMAL IS THE
BEST WAY OF
UNDERSTANDING THE
NORMAL.”
WILLIAM JAMES

3. Meet the presenter:
DR. MALIHA NAWAR
Resident
Community Ophthalmology
Bangabandhu Sheikh Mujib Medical
University

4. • No personal interest
• Information and photos of patient are
provided with due permission from the
patient.

5. OKAY,LET’S GET STARTED
5

6. PATIENT MEDICAL HISTORY
NAME Master Jikir Hossain
AGE 9
GENDER Male
LOCATION Nator
forward protrusion of
both eyes
swelling of left eyelid incomplete closure of
both eyelids
DURATION :7 months
 Gradually increasing in nature
 Redness,
 Photophobia ,
 Gritty sensation

7. His father
also
complained
of
mental
retardation
lack of
development
of speech
since birth
abnormal
shape of the
head
symmetric
syndactyly of
both hands
and feet

8. PHYSICAL EXAMINATION
Abnormal contour of the head
(turribrachycephaly),
Mental retardation,
Delayed milestones,
Mid-face hypoplasia,
8

9.  symmetric syndactyly
of second, third, fourth
and fifth digits of the
hands and all the toes
of the feet.
9

10. 10

11.  Proptosis,
 Hypertelorism,
 Exorbitism,
 Funnel chest,
11

12. 12

13.  high arched palate and
crowded teeth
13

14. HERTEL’S EXOPHTHALMOMETRY :
14
100
22 23

15. NO ABNORMALITY
DETECTED
15

16. PROVISIONAL DIAGNOSIS:
Apert Syndrome
16

17. INVESTIGATIONS:
 CBC with ESR
 BT,CT
 Fasting blood sugar
 SGPT,TSH
 S. creatinine
 S. electrolytes
 Chest x-ray(P/A view) and x-ray
wrists and ankle joints
 Ct scan of brain
 Colour Fundus
photography(ocular)
17

18.  Radiographs of both hands and feet show soft tissue syndactyly of
second, third, fourth and fifth digits of the hands and all the toes of the
feet.
18

19.  Ct scan of brain revealed complete loss of interdigitation in coronal
and partial loss on left lambdoid suture, protrusion of both eyeballs,
abnormal shape of head, decreased nasal bridge and smaller orbital
cavity . 19

20. 20

21. WHY, THE APERT SYNDROME APPLIES TO MY CASE?
21
 Turribrachycephaly,
 Proptosis,
 Hypertelorism,
 Exorbitism,
 Mental retardation,
 Delayed milestones,
 Mid-face hypoplasia,
 symmetric syndactyly
of hands and feet.

22. TAKE HOME MESSEGE:
Apert Syndrome cannot be
cured.
Ophthalmologists treating these
patients should strive for early
identification and appropriate
care of amblyopia, prompt
decompressive surgery prior to
the onset of optic atrophy, and
protection of cornea.
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23. যত্নে রাখি চ াি, দৃষ্টি রাখি ভাত্ন া,
নতুন খদত্ননর দৃষ্টিপ্রদীপ,একান্নত্নতই আত্ন া।
MIRJAM NILSSON
206-555-0146
MIRJAM@CONTOSO.COM
WWW.CONTOSO.COM