JOURNAL OF THE ASSOCIATION OF PHYSICIANS OF INDIA VOL 62 PUBLISHED O

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Apert SyndromeSaikat Datta Sandip Saha Arnab KarAbstractApert syndrome is one of the craniosynostosis syndromes which due to its association with other skeletal anomalies is also known as acrocephalos Download

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1 JOURNAL OF THE ASSOCIATION OF PHYSICIANS
JOURNAL OF THE ASSOCIATION OF PHYSICIANS OF INDIA VOL 62 PUBLISHED ON 1ST OF EVERY MONTH 1ST SEPTEMBER, 2014 Apert SyndromeSaikat Datta, Sandip Saha, Arnab Kar AbstractApert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations. * Introductionraniosynostosis is a congenital defect that causes one or more cranial sutures to fuse API SEPTEMBER 2014 VOL. 62 JOURNAL OF THE ASSOCIATION OF PHYSICIANS OF INDIA VOL 62 PUBLISHED ON 1ST OF EVERY MONTH 1ST SEPTEMBER, 2014deformities affect the skull and the extremities. Mental retardation is common, although the case presented here didn’t have any mental retardation. The hand deformities in Apert syndrome are features which are not observed among any other craniosynostosis. The 2.complex syndactyly of the index, middle and ring simple syndactyly of the fourth web spaceThe deformity found in the first web space may be variable. Based on the first web space, three different types of hand deformities can be classified: First webspaceSyndactylySyndactylySyndactylyconcave palmwebspacesyndactylysyndactylysyndactylyAmong the most important deformities are bony fusions of the second, third and fourth fingers, with a single common nail. Involvement of the first or fifth digits in this bony mass is variable. There can mitten hand ). The patient may also have multiple epiphyseal dysplasia, very short or absent neck Other an

2 omalies which may be found include ventr
omalies which may be found include ventriculomegaly, agenesis of corpus callosum, Fig. 1 :Syndactyly involving ngers with a single common nail involving 2 Fig. 2 :Syndactyly involving toes Fig. 3 :Fused ngers with concave palms Fig. 4 :The patient exhibits a broad forehead, midface hypoplasia and protruding eyes Fig. 5 : Radiographs of both hands showing synostosis involving phalanges of second, third and fourth digits with deformed phalanges of rst digit API SEPTEMBER 2014 VOL. 62 JOURNAL OF THE ASSOCIATION OF PHYSICIANS OF INDIA VOL 62 PUBLISHED ON 1ST OF EVERY MONTH 1ST SEPTEMBER, 2014 acne, polycystic kidney, hydronephrosis, ASD, VSD, coarctation of aorta, dextrocardia, pyloric stenosis, The patient under discussion had concave palms with fusion of fingertops, and sock foot deformity (fusion of all the metatarsals and Although the patient was having most of the phenotypic features of Apert syndrome, he stood apart due to his normal mental function and normal There is no cure for Apert syndrome, but interventions may be done to help the affected person lead a life close to normalcy. Prenatal ultrasound at third trimester of pregnancy and genetic studies can detect this defect. If diagnosed early, the prognosis of such an unborn child may be explained to the parents, After birth, management depends on team work by neuroradiologist, craniofacial surgeon, paediatric surgeon, paediatric anaesthetist, plastic surgeons for hand surgery and orthodontist. Chronic middle ear effusion may need bilateral myringotomy. Cranial surgery is aimed to reshape the calvaria and re

3 lief of raised intracranial pressure. Or
lief of raised intracranial pressure. Orbital surgery is aimed to correct ocular proptosis. Midfacial surgery and mandibular surgery are needed for correction of facial ReferencesCohen MM:Apert syndrome, not Apert’s syndrome: Apert neither had nor owned the syndrome that bears his name. Plast Reconstr Surg2.Mukhopadhyay AK, Mukherjee D. Apert’s syndrome. Indian J Dermatol Venereol Leprol3.Arroyo Carrera I, Martinez-Frias ML, Marco Perez JJ et al:Apert syndrome: clinico-epidemiological analysis of a series of consecutive An Esp Pediatr 4.Ibrahimi OA, Chiu ES, McCarthy JG, Mohammadi M:Understanding the molecular basis of Apert syndrome. Plast Reconstr Surg2005;115:264-Saritha S, Sumangala,Supriya G, Praveen Kumar M: Apert syndrome (Acrocephalosyndactyly): a case report. Int J Res Med SciApert, E.: Dc l’acrocdphalosyndactylie. Bull. etMem. Soc. Med. hop. Paris, 23:1310-1330,1906.7.Ferreira J C, Carter S M, Bernstein P S, Jabs E W, Glickstein J S, Marion R W, Baergen R N, Gross S J: Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound ndings. Ultrasound Obstet GynecolHoho A, Joos U, Meyer U, Ehmer U, Stamm T: The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery. Head and Face MedicineFig. 6 : Radiographs of the feet showing soft tissue syndactyly of all the toes with synostosis involving metatarsals of all the digits of both the feet along Fig. 7 : Radiograph of the skull showing prognathismAPI SEPTEMBER 2014 VOL.

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