Apert Syndrome: A Rare Presentation Article November 2006 CITATIONS - - PDF document

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Apert Syndrome: A Rare Presentation

Article · November 2006

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3 authors, including: Some of the authors of this publication are also working on these related projects: Acute Disseminated Encephalomyelitis—Masquerading as Pediatric Stroke: Case Report View project Prevalence of Pulmonary Hypertension in SCA children View project Amar Taksande Jawaharlal Nehru Medical College, Sawangi Meghe

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SLIDE 2

C A S E R E P O R T

J I A C M 2 7 ; 8 ( 3 ) : 2 4 5

• 6

* L e c t u r e r , * * P r

• f

e s s

• r

, * * * R e s i d e n t , D e p a r t m e n t

• f

P a e d i a t r i c s , M a h a t m a G a n d h i I n s t i t u t e

• f

M e d i c a l S c i e n c e s , S e v a g r a m , Wardha

• 442

102, Maharashtra.

Apert Syndrome: A Rare Presentation

Amar Taksande*, Krishna Vilhekar**, Sona Khangare***

A b s t r a c t

A p e r t s y n d r

• m

e ( a c r

• c

e p h a l

• s

y n d a c t y l y ) i s a r a r e c

• n

g e n i t a l d i s

• r

d e r c h a r a c t e r i s e d b y c r a n i

• s

y n

• s

t

• s

i s , m i d

• f

a c i a l m a l f

• r

m a t i

• n

a n d s y m m e t r i c a l s y n d a c t y l y . W e p r e s e n t a 7

• y

e a r

• l

d f e m a l e h a v i n g a l l t h e f e a t u r e s

• f

c l a s s i c a l A p e r t s y n d r

• m

e . K e y w

• r

d s : A p e r t , S y n d a c t y l y , C r a n i

• s

y n

• s

t

• s

i s .

I n t r

• d

u c t i

• n

Apert syndrome (acrocephalosyndactyly) is a congenital d i s

• r

d e r c h a r a c t e r i s e d p r i m a r i l y b y c r a n i

• s

y n

• s

t

• s

i s , m i d

• f

a c e h y p

• p

l a s i a , a n d s y n d a c t y l y

• f

t h e h a n d s a n d f e e t w i t h a t e n d e n c y f

• r

f u s i

• n
• f

b

• n

y s t r u c t u r e s

1.

C r a n i

• s

y n

• s

t

• s

i s (

• r

c r a n i

• s

t e n

• s

i s ) i s d e f i n e d a s p r e m a t u r e c l

• s

u r e

• f

t h e c r a n i a l s u t u r e s p r

• d

u c i n g d e f

• r

m i t y

• f

t h e s k u l l . I t m a y b e p r i m a r y ,

• r

i g i n a t i n g f r

• m

a s u t u r a l p a t h

• l
• g

y ,

• r

s e c

• n

d a r y r e s u l t i n g f r

• m

d y s g e n e s i s

• f

t h e u n d e r l y i n g b r a i n . I t h a s b e e n d e s c r i b e d i n v a r i

• u

s s y n d r

• m

e s l i k e A p e r t , C r

• u

z

• n

, P f e i f f e r a n d J a c k s

• n
• W

e i s s , a n d i s a s s

• c

i a t e d w i t h s p e c i f i c s y s t e m i c a n

• m

a l i e s

2.

W e p r e s e n t a 7

• y

e a r

• l

d g i r l w i t h a l l t h e f e a t u r e s

• f

A p e r t s y n d r

• m

e .

Case report

A seven-year-old girl presented with the complaints

• f

abnormal shape

• f

the head, webbed fingers, and developmental delay. On examination, the baby was found t

• h

a v e f l a t t e n e d

• c

c i p u t w i t h f r

• n

t a l p r

• m

i n e n c e , a b n

• r

m a l c

• n

t

• u

r

• f

t h e h e a d ( b r a c h y c e p h a l y ) , s h a l l

• w
• r

b i t s w i t h b i l a t e r a l p r

• p

t

• s

i s , h y p e r t e l

• r

i s m , d e p r e s s e d n a s a l b r i d g e , h y p

• p

l a s t i c m a x i l l a e , l

• w

s e t e a r s , a n d d e n t a l a n

• m

a l i e s (Fig. 1). She had symmetrical syndactyly with complete f u s i

• n
• f

a l l t h e f i v e d i g i t s

• f

b

• t

h h a n d s a n d b

• t

h f e e t ( F i g . 2 ) . T h e f u s e d f i n g e r s a n d t

• e

s h a d s e p a r a t e n a i l s . T h e r e w a s n

• t

h e r a p p a r e n t c

• n

g e n i t a l m a l f

• r

m a t i

• n

, a n d s y s t e m i c examination revealed no

• ther

abnormality. On i n v e s t i g a t i

• n

, X

• r

a y

• f

t h e s p i n e , a b d

• m

i n a l u l t r a s

• n
• g

r a p h y , and echocardiography were normal. Radiographs

• f

both hands and feet showed soft tissue syndactyly

• f

all the d i g i t s a n d t

• e

s . S k u l l r a d i

• g

r a p h s r e v e a l e d f u s e d c

• r
• n

a l sutures, brachycephalic skull contour, elongated flat f

• r

e h e a d w i t h b i t e m p

• r

a l w i d e n i n g , i n c r e a s e d c

• n

v

• l

u t i

• n

a l m a r k i n g s s u g g e s t i v e

• f

i n c r e a s e d i n t r a c r a n i a l p r e s s u r e a n d hypertelorism. All findings were diagnostic

• f

Acrocephalosyndactyly

• r

Apert syndrome.

F i g . 1 : C h a r a c t e r i s t i c f e a t u r e s

• f

A p e r t s y n d r

• m

e s h

• w

i n g

• c

u l a r h y p e r t e l

• r

i s m , p r

• p

t

• t

i c e y e s , d e p r e s s e d n a s a l b r i d g e , a n d s h

• r

t w i d e n

• s

e w i t h b u l b

• u

s t i p a r e s e e n i n t h i s s e v e n

• y

e a r

• l

d g i r l . F i g . 2 : Same child with mitten appearance

• f

the hands with s y n d a c t y l y a n d s

• c

k

• l

i k e a p p e a r a n c e

• f

t h e f e e t w i t h s y n d a c t y l y .

SLIDE 3

D i s c u s s i

• n

Apert syndrome was first described by Eugene Apert in t h e y e a r 1 9 6 . H e d e s c r i b e d a t r i a d

• f

c r a n i

• s

y n

• s

t

• s

i s , s y n d a c t y l y , a n d m a x i l l a r y h y p

• p

l a s i a . T h e i n c i d e n c e

• f

A p e r t syndrome is approximately

• ne

in 50,000 births

3.

More than 98%

• f

cases with Apert syndrome are caused by specific missense substitution mutations, involving adjacent amino acids (i.e., Ser252Trp, Ser252Phe, Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains

• f

FGFR2, which maps to chromosome bands 10q25

• q26.

The remaining cases are due to Alu-element insertion mutations in

• r

n e a r e x

• n

9

• f

F G F R 2 . T h e m a j

• r

i t y

• f

c a s e s a r e s p

• r

a d i c , r e s u l t i n g f r

• m

n e w m u t a t i

• n

s w i t h a p a t e r n a l a g e e f f e c t4. A p e r t s y n d r

• m

e i s t h

• u

g h t t

• c

c u r a s a r e s u l t

• f

a n d r

• g

e n end-organ hyper-response affecting the epiphyses and s e b a c e

• u

s g l a n d s . T h i s r e s u l t s i n e a r l y e p i p h y s e a l f u s i

• n

resulting in short stature, short and fused digits, a n d a c r

• c

e p h a l y

5.

I n A p e r t s y n d r

• m

e , t h e c r a n i a l v a u l t d e f

• r

m i t y i s v a r i a b l e , but most

• ften

presents as a short anteroposterior dimension with craniosynostosis involving the coronal s u t u r e s r e s u l t i n g i n a t u r r i b r a c h y c e p h a l i c s k u l l . T h e t y p i c a l c r a n i

• f

a c i a l a p p e a r a n c e i n c l u d e s a f l a t , e l

• n

g a t e d f

• r

e h e a d w i t h b i t e m p

• r

a l w i d e n i n g a n d

• c

c i p i t a l f l a t t e n i n g . T h e r e i s a l s

• m

i d

• f

a c e h y p

• p

l a s i a a c c

• m

p a n i e d b y

• r

b i t a l p r

• p

t

• s

i s , d

• w

n s l a n t i n g p a l p e b r a l f i s s u r e s a n d h y p e r t e l

• r

i s m . H i g h a r c h e d p a l a t e , c l e f t s

• f

t h e s e c

• n

d a r y p a l a t e , a n d c r

• w

d i n g

• f

the dental arch can also be seen. The nose is down- t u r n e d a t t h e t i p , t h e b r i d g e i s d e p r e s s e d , a n d t h e s e p t u m deviated

6.

Other central nervous system abnormalities i n c l u d e m a l f

• r

m a t i

• n

s

• f

t h e c

• r

p u s c a l l

• s

u m , t h e l i m b i c s t r u c t u r e s ,

• r

b

• t

h , m e g a l e n c e p h a l y , g y r a l a b n

• r

m a l i t i e s , e n c e p h a l

• c
• e

l e , p y r a m i d a l t r a c t a b n

• r

m a l i t i e s , h y p

• p

l a s i a

• f

c e r e b r a l w h i t e m a t t e r a n d h e t e r

• t
• p

i c g r a y m a t t e r . T h e r e is also an increased incidence

• f

delayed mental development in these children, but many

• f

them develop n

• r

m a l i n t e l l i g e n c e7. T h e u s u a l h a n d a b n

• r

m a l i t y i n A p e r t s y n d r

• m

e c

• n

s i s t s

• f

a b

• n

y f u s i

• n
• f

t h e s e c

• n

d , t h i r d , a n d f

• u

r t h f i n g e r s , w i t h a s i n g l e c

• m

m

• n

n a i l . I n v

• l

v e m e n t

• f

t h e f i r s t

• r

f i f t h d i g i t s i n t h i s b

• n

y m a s s i s v a r i a b l e . T h e r e c a n b e a s i m i l a r d e f

• r

m i t y i n v

• l

v i n g t h e f

• t

( m i t t e n h a n d and sock foot). Other skeletal abnormalities have been d e s c r i b e d i n A p e r t s y n d r

• m

e . T h e s e i n c l u d e l i m i t e d m

• b

i l i t y a t g l e n

• h

u m e r a l j

• i

n t a n d e l b

• w

j

• i

n t , m u l t i p l e e p i p h y s e a l dysplasia, very short

• r

absent neck

• f

scapula, small capitulum, and flat radial head

8.

Commonly associated s y s t e m i c f e a t u r e s i n c l u d e c a r d i a c a n

• m

a l i e s , v i s u a l a n d h e a r i n g d e f e c t s , c l e f t p a l a t e a n d v a r y i n g d e g r e e s

• f

a c n e . A c n e i s u s u a l l y s e v e r e , e x t e n s i v e , a n d r e s i s t a n t t

• t

r e a t m e n t . S k i n , e y e s , a n d h a i r m a y s h

• w

p i g m e n t a r y d i l u t i

• n

. O t h e r cutaneous abnormalities reported are hyperhidrosis and

• c

u l

• c

u t a n e

• u

s a l b i n i s m

9.

P s y c h

• l
• g

i c a l c

• u

n s e l l i n g s h

• u

l d include attachment and interaction with peers. Genetic c

• u

n s e l l i n g i s a n i m p

• r

t a n t f a c t

• r

. R e c u r r e n c e r i s k f

• r

a n a f f e c t e d i n d i v i d u a l t

• h

a v e a n a f f e c t e d

• f

f s p r i n g i s 5 % . T r e a t m e n t i n v

• l

v e s m u l t i d i s c i p l i n a r y t e a m w

• r

k i n c l u d i n g c r a n i

• f

a c i a l s u r g e

• n

, n e u r

• s

u r g e

• n

, p e d i a t r i c i a n , s p e e c h p a t h

• l
• g

i s t , a n d a n

• r

t h

• d
• n

t i s t . S u r g i c a l c a r e i n v

• l

v e s e a r l y release

• f

the coronal suture and fronto-orbital advancement and reshaping to reduce dysmorphic and u n w a n t e d s k u l l g r

• w

t h c h a n g e s . C r a n i

• s

y n

• s

t

• s

i s r e q u i r e s m u l t i s t a g e d

• p

e r a t i v e p r

• c

e d u r e s . S u r g i c a l s e p a r a t i

• n
• f

d i g i t s ( m i t t e n

• g

l

• v

e s y n d a c t y l y ) p r

• v

i d e s r e l a t i v e l y l i t t l e f u n c t i

• n

a l i m p r

• v

e m e n t .

Reference

1 . M a n t i l l a

• C

a p a c h

• J

M , A r n a u d L , D i a z

• R
• d

r i g u e z M , B a r r

• s
• Nunez

P. Apert syndrome with preaxial polydactyly s h

• w

i n g t h e t y p i c a l m u t a t i

• n

S e r 2 5 2 T r p i n t h e F G F R 2 g e n e . G e n e t C

• u

n s e l 2 5 ; 1 6 : 4 3

• 6

. 2 . V i j a y a l a k s h m i A M , M e n

• n

A . A p e r t s y n d r

• m

e . I n d i a n P e d i a t r 2 2 ; 3 9 ( 9 ) : 8 7 6

• 8

. 3 . Albuquerque MA, Cavalcanti MG. Computed tomography assessment

• f

Apert syndrome. P e s q u i O d

• n

t

• l

B r a s 2 4 ; 1 8 ( 1 ) : 3 5

• 9

. 4 . Wallis-Crespo MC, Enid GB. Pathology teach and tell: a c r

• c

e p h a l

• s

y n d a c t y l y t y p e I ( A p e r t s y n d r

• m

e ) . F e t a l P e d i a t P a t h

• l

2 4 ; 2 3 : 1 9 1

• 7

. 5 . Henderson CA, Knaggs H, Clark A e t a l. Apert syndrome and androgen receptor staining

• f

the basal cells

• f

s e b a c e

• u

s g l a n d s . B r J D e r m a t

• l

1 9 9 5 ; 1 3 2 : 1 3 9

• 4

3 . 6 . Aviv RI, Rodger E, Hall CM. Craniosynostosis. C l i n i c a l R a d i

• l
• g

y 2 2 ; 5 7 : 9 3

• 1

2 . 7 . Cohen MM Jr, Kreiborg S. The central nervous system in t h e A p e r t s y n d r

• m

e . A m J M e d G e n e t 1 9 9 ; 3 5 ( 1 ) : 3 6

• 4

5 . 8 . Cohen MM Jr, Kreiborg S. Skeletal abnormalities in the A p e r t s y n d r

• m

e . A m J M e d G e n e t 1 9 9 3 ; 4 7 ( 5 ) : 6 2 4

• 3

2 . 9 . Solomon LM, Fretzin D, Pruzansky S. Pilosebaceous a b n

• r

m a l i t i e s i n A p e r t s y n d r

• m

e . A r c h D e r m a t

• l

1 9 7 ; 1 2 : 3 8 1

• 5

.

246 Journal, Indian Academy of Clinical Medicine Vol. 8, No. 3 July-September, 2007

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