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

See discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/266471224 Apert Syndrome: A Rare Presentation Article · November 2006 CITATIONS READS 3 62 3 authors , including: Amar Taksande Jawaharlal Nehru Medical College, Sawangi Meghe 153 PUBLICATIONS 518 CITATIONS SEE PROFILE 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 All content following this page was uploaded by Amar Taksande on 31 March 2015. The user has requested enhancement of the downloaded file.

J I A C M 2 0 0 7 ; 8 ( 3 ) : 2 4 5 - 6 C A S E R E P O R T 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 o m e ( a c r o c e p h a l o s y n d a c t y l y ) i s a r a r e c o n g e n i t a l d i s o r d e r c h a r a c t e r i s e d b y c r a n i o s y n o s t o s i s , m i d - f a c i a l m a l f o r m a t i o 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 - o 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 o f c l a s s i c a l A p e r t s y n d r o m e . K e y w o r d s : A p e r t , S y n d a c t y l y , C r a n i o s y n o s t o s i s . I n t r o d u c t i o n m a r k i n g s s u g g e s t i v e o 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 of Apert syndrome (acrocephalosyndactyly) is a congenital Acrocephalosyndactyly or Apert syndrome. d i s o 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 o s y n o s t o s i s , m i d - f a c e h y p o p l a s i a , a n d s y n d a c t y l y o f t h e h a n d s a n d f e e t w i t h 1 . a t e n d e n c y f o r f u s i o n o f b o n y s t r u c t u r e s C r a n i o s y n o s t o s i s ( o r c r a n i o s t e n o 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 o s u r e o f t h e c r a n i a l s u t u r e s p r o d u c i n g d e f o r m i t y o f t h e s k u l l . I t m a y b e p r i m a r y , o r i g i n a t i n g f r o m a s u t u r a l p a t h o l o g y , o r s e c o n d a r y r e s u l t i n g f r o m d y s g e n e s i s o 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 o u s s y n d r o m e s l i k e A p e r t , C r o u z o n , P f e i f f e r a n d J a c k s o n - W e i s s , a n d i s a s s o 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 o m a l i e s 2 . W e p r e s e n t a 7 - y e a r - o l d g i r l w i t h a l l t h e f e a t u r e s o f A p e r t s y n d r o m e . Case report A seven-year-old girl presented with the complaints of abnormal shape of the head, webbed fingers, and developmental delay. On examination, the baby was found 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 o f A p e r t s y n d r o m e s h o w i n g o c u l a r t o h a v e f l a t t e n e d o c c i p u t w i t h f r o n t a l p r o m i n e n c e , a b n o r m a l h y p e r t e l o r i s m , p r o p t o 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 o r t w i d e c o n t o u r o 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 o w o r b i t s w i t h n o s e w i t h b u l b o 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 - o l d g i r l . b i l a t e r a l p r o p t o s i s , h y p e r t e l o 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 o p l a s t i c m a x i l l a e , l o w s e t e a r s , a n d d e n t a l a n o m a l i e s (Fig. 1). She had symmetrical syndactyly with complete f u s i o n o f a l l t h e f i v e d i g i t s o f b o t h h a n d s a n d b o 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 o 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 o o t h e r a p p a r e n t c o n g e n i t a l m a l f o r m a t i o n , a n d s y s t e m i c examination revealed no other abnormality. On i n v e s t i g a t i o n , X - r a y o f t h e s p i n e , a b d o m i n a l u l t r a s o n o g r a p h y , and echocardiography were normal. Radiographs of both hands and feet showed soft tissue syndactyly of all the d i g i t s a n d t o e s . S k u l l r a d i o g r a p h s r e v e a l e d f u s e d c o r o n a l F i g . 2 : Same child with mitten appearance of the hands with sutures, brachycephalic skull contour, elongated flat s y n d a c t y l y a n d s o c k - l i k e a p p e a r a n c e o f t h e f e e t w i t h s y n d a c t y l y . f o r e h e a d w i t h b i t e m p o r a l w i d e n i n g , i n c r e a s e d c o n v o l u t i o n a l * L e c t u r e r , * * P r o f e s s o r , * * * R e s i d e n t , D e p a r t m e n t o 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 o 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.