Journal of Postgraduate Medicine
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IMAGES IN MEDICINE
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Year : 2000  |  Volume : 46  |  Issue : 2  |  Page : 129  

Images in medicine: Apert syndrome.

HS Hosalkar, HH Shah, PP Gujar, AA Chaudhari 
 Bai Jerbai Wadia Hospital For Children, Parel, Mumbai - 400 012, India. , India

Correspondence Address:
H S Hosalkar
Bai Jerbai Wadia Hospital For Children, Parel, Mumbai - 400 012, India.
India




How to cite this article:
Hosalkar H S, Shah H H, Gujar P P, Chaudhari A A. Images in medicine: Apert syndrome. J Postgrad Med 2000;46:129-129


How to cite this URL:
Hosalkar H S, Shah H H, Gujar P P, Chaudhari A A. Images in medicine: Apert syndrome. J Postgrad Med [serial online] 2000 [cited 2019 Nov 13 ];46:129-129
Available from: http://www.jpgmonline.com/text.asp?2000/46/2/129/296


Full Text

A 2 months old female child born of consanguineous marriage, presented with dysmorphic features and hand and foot deformities. Examination revealed craniofacial and limb dysmorphism in the form of brachycephaly, sutural fusion, open anterior fontanelle, hyperteleorism, malar hypoplasia, high arched palate with cleft palate, low set ears and syndactyly in all digits of hands and feet [Figure:1]. There were no other associated congenital anomalies. Based on clinico-radiological evaluation a diagnosis of Apert syndrome was made.


  ::   DiscussionTop


Apert syndrome (AS) or acrocephalosyndactyly refers to primary craniosynostosis characterised by premature fusion of coronal, sagittal and lambdoid sutures associated with a symmetric faces and syndactyly. All patients have progressive calcification and fusion of bones of hands and feet and cervical spine. Although, AS is a sporadic condition, autosomal dominant inheritance may occur. Incidence of AS is 15 per 1,000,000 births and it accounts for about 4.5% of all cases of craniosynostosis[1].

Most cases show consistent post-natal growth failure. At adolescence, more pronounced slowing in growth might lead to rhizomelic shortening of lower limbs[2],[3].

Apart from risk of developing raised intracranial tension and optic atrophy, patients with AS are prone for other congenital anomalies. These include megalencephaly, corpus callosal defect and limbic system, hydrocephalus though reported is not very common[2],[4]. Others include overriding of aorta, septal defects; hydronephrosis, cryptorchidism, polycystic or hydronephrotic kidney, bicornuate uterus; tracheal stenosis, pulmonary hypoplasia, pyloric stenosis, and oesophageal atresia[4].

Distortion and displacement of craniofacial bones is common which can compromise the nasopharyngeal and oropharyngeal space, posing risk of obstructive sleep apnoea, cor-pulmonale and even sudden death[5].

A number of limb anomalies are associated with AS[6]: Limitation of movement at glenohumeral joint is a constant feature with progressive worsening with growth. Humeral shortening. progressive ossification of the interphalangeal joints with stiffness can occur, despite surgical separation of fingers. Other associated problems are shallow orbits with ocular proptosis, exotropia, strabismus and refractive errors, congenital fixation of stapedial plate and recurrent otitis media[1],[4],[5].

Craniectomy is mandatory for treatment and a multidisciplinary approach is required for the management.

References

1 Apert syndrome. In: Buyse ML editor. Birth Defects Encyclopedia. Cambridge: Blackwell Science Ltd; 1990. pp 3738.
2Cohen MM Jr, Kreiborg S. The central nervous system in the Apert Syndrome. Am J Med Genet 1990; 35:3645.
3Cohen MM Jr, Kreiborg S. The growth pattern in the Apert syndrome. Am J Med Genet 1993; 47:617-623.
4Cohen MM Jr, Kreiborg S. Visceral anomalies in the Apert syndrome. Am J Med Genet 1993; 45:758760.
5Kreiborg S. Cohen MM Jr. Characteristics of the infant Apert skull and its subsequent development. J Craniofac Genet Dev Biol 1990; 10:399410.
6Cohen MM Jr, Kreiborg S. Skeletal abnormalities in the Apert syndrome. Am J Med Genet 1993; 47:624-632.

 
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