| Article Access Statistics|
| Viewed||2761 |
| Printed||93 |
| Emailed||4 |
| PDF Downloaded||0 |
| Comments ||[Add] |
Click on image for details.
|Year : 1979 | Volume
| Issue : 2 | Page : 109-111
Apert's syndrome-a type of acrocephalosyndactyly - a case report
DV Punwani, Vimla Purohit, Simin F Irani, NB Kumta
Department of Paediatrics, K.E.M. Hospital and Seth G.S. Medical College, Parel, Bombay-400 012, India
D V Punwani
Department of Paediatrics, K.E.M. Hospital and Seth G.S. Medical College, Parel, Bombay-400 012
Source of Support: None, Conflict of Interest: None
A case of acrocephalosyndactyly diagnosed at birth is reported for its rarity. The typical features are described and the mode of inheritance discussed.
|How to cite this article:|
Punwani D V, Purohit V, Irani SF, Kumta N B. Apert's syndrome-a type of acrocephalosyndactyly - a case report
. J Postgrad Med 1979;25:109-11
| :: Introduction|| |
Acrocephalosyndactyly is a rare developmental deformity characteristically affecting the head, hands and feet. Apert  in 1906 reported nine cases and since then his name has been associated with acrocephalosyndactyly. By 1974, about 207 cases had been reported in the world literature.  A few cases have also been reported from different parts of India. ,,,, Considering the general paucity of cases of acrocephalosyndactyly in the Indian literature, a case is presented and the literature reviewed.
| :: Case report|| |
M.C.S. was the fourth in the family, born to non-consanguinous parents after a normal 1abour. The mother's age was 28 years and the father was 35 years old. The patient was the product of a full term uneventful pregnancy with no known exposure to infection, drugs or irradiation. No similar malformations were known in either parent's family. Both parents and their other children were examined and found to be normal, clinically and radiologically.
The child weighed 3.2, kg. at birth, with a length of 52 cm. The upper segment measured 29 cm. The skull circumference was 31.5 cm. and the chest circumference 32 cm. The facial appearance was peculiar due to lateral displacement of both medial canthi and associated epicanthic folds, with prominent downthrust eyes and a flat nasal bridge (See [Figure 1] on page 108B). The palate was high arched with a cleft in its posterior third. There was a flexion deformity of the elbows and knees with symmetrical deformity of both hands, which were short and stubby, and showed complete syndactyly of all the fingers with a short displaced thumb and a synonychia of the index, middle and ring fingers. The palmar aspect was spoon shaped. The feet showed a varus deformity with syndactyly of all toes See [Figure 2] on page 108B). There was a dimple in the sacral region. The other systems revealed no abnormality.
Roentgenographic examination of the bony skeleton revealed an acrocephaly with fusion of the metacarpals at their proximal ends and the terminal phalanges at their distal ends.
| :: Discussion|| |
A deformity of the osseous system is the most conspicuous feature of the syndrome of acrocephalosyndactyly. It is recognisable at birth and characteristically affects the head and extremities.  The major manifestations include premature closure of the cranial sutures, and syndactyly affecting the hands and feet.
In the reported cases, the age incidence varies from 4 months to 9 years although the oldest patient reported has been 27 years of age.  In our case however, the deformities were noticed at birth.
Due to closure of the coronal sutures, the calvarium is lengthened vertically and shortened in the antero-posterior dimension, resulting in a flattened occiput and a prominent frontal area. There is hypertelorism with an antimongoloid slant and bulging of the eyes secondary to the shallow orbits. Facial dysostosis consisting of hypoplasia of the maxillae, a prominent mandible, high arched narrow palate, crowded teeth, an open mouth secondary to nasal obstruction, and occasionally a cleft palate are present.
The syndactyly is marked and resembles a `mitten hand' or `sock foot'. There is usually a complete fusion of the distal soft tissues, and occasionally of the bones. The thumbs and big toes may or may not be involved in the fusion. Other less frequent skeletal anomalies may be present.
Some mental impairment is present in almost every case, but its true incidence is not known. Most cases show no visceral abnormality. Various classifications of acrocephalosyndactyly-Vogt's, Moht's, Waardenburg's and Pfeiffer's depend upon the type and degree of syndactyly present .  Syndactyly is one of the distinguishing features between Apert's and Crouzon's syndrome. Although most published cases have been sporadic in occurrence, there are sufficient family data to make a genetic origin for the condition probable  An autosomal dominant type of inheritance may be encountered, when acrocephalosyndactyly can be attributed to a single gene in heterozygous form. Sporadic cases are due to new mutations in the germ cells of either parent. There is marked parental age effect among sporadic cases, probably solely due to an increase in the father's age. 
Because of the generalized changes and the increasing deformities with age, it is felt that acrocephalosyndactyly is not a particularly good descriptive term for this disease, and in its place `progressive synosteosis with syndactyly' is more inclusive since the acrocephaly is for the most part explained by premature synosteosis. 
| :: Acknowledgement|| |
We thank Dr. C. K. Deshpande, Dean, K.E.M. Hospital for permission to publish this article.
| :: References|| |
|1.||Apert, M. E.: De 1'acrocephalosyndactylie. Bull, et. mem, Soc. med. hop. Paris, 23: 1310-1330, 1906. |
|2.||Blank, C. E.: Apert's syndrome (a type of acrocephalosyndactyly): Observations on a British series of 39 cases. Ann. Human Genet., 24: 151-164, 1960. |
|3.||Cooper, H.: Acrocephalosyndactyly with report of a case. Brit.. J. Radiol., 26: 533-538, 1953. |
|4.||Forfar, J. O. and Arneil, G. C.: "Text Book of Paediatrics", 1st Edition. Churchill-Livingstone, Edinburgh and London, 1973, p. 1508-1510. |
|5.||Kalra, S. K., Sarkar, P. K., Bajpayee, C. P., Rao, K. S. and Likhari, R. S.: Apert's Syndrome. Indian Paediat., 14: 153-155, 1977. |
|6.||Panda, K. and Kar, a.: Apert's Syndrome with genital malformation. J. Ind. Med. Assoc., 63: 224-227, 1974. |
|7.||Purohit, N. N., Purohit, Meera and Garg. 0. P.: Apert's syndrome-report of a case. Ind. J. Paediat., 44: 284-286, 1977. |
|8.||8. Saxena, S., Sharma, J. and Saxena, 0.: Acrocephalosyndactyly (Apert's syndrome)-Report of a case. Ind. J. Paediat., 35: 487-489, 1968. |
|9.||Schauerte, E. W. and St. Aubin, P. M.: Progressive synosteosis in Apert's syndrome (Acroccphalosyndactyly)-with a description of roentgenographic changes in the feet. Amer. J. Roentgenol., 97: 67-73, 1966. |
|10.||Verma, K. C., Sordan, V. M. and Amla, T. R.: Apert's syndrome-a case report. Indian Paediat., 12: 1186-1188, 1975. |
[Figure 1], [Figure 2]