Indian Journal of Radiology and Imaging Indian Journal of Radiology and Imaging

MUSCULOSKELETAL
Year
: 2005  |  Volume : 15  |  Issue : 4  |  Page : 477--480

Apert's syndrome - A case report


V Upadhyaya, DN Upadhyaya, S Sarkar 
 Sarkar Diagnostic Centre, Mahanagar, Lucknow - 226006, India

Correspondence Address:
V Upadhyaya
Sarkar Diagnostic Centre, C-1093, Sector A, Mahanagar, Lucknow - 226006
India




How to cite this article:
Upadhyaya V, Upadhyaya D N, Sarkar S. Apert's syndrome - A case report.Indian J Radiol Imaging 2005;15:477-480


How to cite this URL:
Upadhyaya V, Upadhyaya D N, Sarkar S. Apert's syndrome - A case report. Indian J Radiol Imaging [serial online] 2005 [cited 2019 Sep 18 ];15:477-480
Available from: http://www.ijri.org/text.asp?2005/15/4/477/28778


Full Text

 INTRODUCTION



Craniosynostosis is the term that designates premature fusion of one or more sutures. Reduced or asymmetrical skull growth ensues, causing deformity of the skull vault or the base. Virchow in 1851 noted that there is a cessation of growth in a direction perpendicular to that of the affected suture while growth proceeds in a parallel direction. There are also distinct craniofacial synostosis syndromes that share common features such as suture synostosis, midface hypoplasia and facial and limb abnormalities.

Apert's syndrome is one such syndrome which is characterized by craniosynostosis, exorbitism, midface hypoplasia and symmetric syndactyly of both hands and feet. We report one such case.

 CASE REPORT



A six year old boy presented with the complaints of symmetric syndactyly of both hands and feet, abnormal shape of the head and mental retardation, manifested by the lack of development of speech.

Examination of the patient revealed the findings of abnormal contour of the head (turribrachycephaly), symmetric syndactyly of second, third, fourth and fifth digits of the hands [Figure 1] and all the toes of the feet [Figure 2], mental retardation, delayed milestones, mid-face hypoplasia, proptosis, exorbitism, high arched palate, and Angle's Class II malocclusion. A provisional diagnosis of Apert's Syndrome was established and radiological investigations were performed.

Radiographs of both hands showed soft tissue syndactyly of second, third, fourth and fifth digits and synostosis involving phalanges of third and fourth digits with deformed phalanges of first digit [Figure 3]. Radiographs of both feet showed soft tissue syndactyly of all the toes with synostosis involving metatarsals of first, second and third digits. Phalanges of great toe were deformed [Figure 4]. Skull radiographs revealed fused coronal sutures, turribrachycephalic skull contour, elongated flat forehead with bitemporal widening, increased convolutional markings suggestive of increased intracranial pressure and hypertelorism [Figure 5],[Figure 6]. Spiral CT of the brain was performed which confirmed these findings. Also, the ventricles were mildly dilated and proptosis was noted [Figure 7],[Figure 8].

 DISCUSSION



Apert's syndrome was described by Wheaton in 1894 [1]. In 1906, Apert published a summary on nine cases [2]. Apert's syndrome makes up approximately 4% of all cases of craniosynostosis. The incidence is reported to be 1/160,000 live births [3]. The molecular basis of this syndrome appears remarkably specific: two adjacent amino acid substitutions (either S252W or P253R) occurring in the linking region between the second and third immunoglobulin domains of the fibroblast growth factor (FGR) 2 gene [4].

Radiology has an important role to play in the evaluation, management and follow up of these patients. Plain radiographs are sufficient for diagnosis but CT has added a new dimension to the evaluation of these disorders.

In Apert's syndrome, or acrocephalosyndactly, the cranial vault deformity is variable but most often presents as a short anteroposterior dimension with craniosynostosis involving the coronal sutures resulting in a turribrachycephalic skull. The typical craniofacial appearance includes a flat, elongated forehead with bitemporal widening and occipital flattening. Premature fusion of sutures with continued brain growth can lead to increased intracranial pressure which can be seen as increased convolutional markings on skull radiographs. There is also midface hypoplasia accompanied by orbital proptosis, downslanting palpebral fissures and hypertelorism. High arched palate, clefts of the secondary palate and crowding of the dental arch can also be seen. The nose is down turned at the tip, the bridge is depressed and the septum deviated.

Plain skull radiographs including anteroposterior (AP), lateral and Towne's projections are usually done. Now, three-dimensional CT scans have added a further dimension in planning surgery of these patients and for objective assessment of operative outcome. It is important to evaluate the entire length of each suture as a small segment only may be involved, not seen on plain radiography, resulting in a functional synostosis of the whole suture. This is only effectively done with axial CT images on bone window settings. Several perspectives can be obtained enabling measurement of the skull width in the anterior, mid and posterior thirds as well as the biparietal diameter and interocular distance. The measurements and surface shaded images provide a baseline against which future interval growth and post-operative CT studies can be compared. The dataset also enables construction of three-dimensional models on which complex surgical corrective procedures can be tested [5].

Other central nervous system abnormalities include malformations of the corpus callosum, the limbic structures, or both, megalencephaly, gyral abnormalities, encephalocele, pyramidal tract abnormalities, hypoplasia of cerebral white matter and heterotopic gray matter [6]. CT can help in the detection of such abnormalities. There is also an increased incidence of delayed mental development in these children, but many of them develop normal intelligence.

Cervical spine involvement in the form of variable degrees of fusion has been described, involving the articular facets, the neural arch or transverse processes, or block fusion of the vertebral bodies. In a study by Kreiborg et al, cervical fusions occurred in 68%, single fusion in 37% and multiple fusions in 31%. C5-C6 fusion was most common, alone or in combination with other fusions [7].

The upper extremities are shortened. The usual hand abnormality in Apert's syndrome consists of a bony fusion 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 be a similar deformity involving the foot (mitten hand and sock foot). Other skeletal abnormalities have also been described in Apert's syndrome. These include limited mobility at glenohumeral joint and elbow joint, multiple epiphyseal dysplasia, very short or absent neck of scapula, small capitulum and flat radial head. [8].

Our patient was operated upon at a plastic and reconstructive surgery centre by a team well experienced in craniofacial corrective surgery. Craniofacial correction in the form of bilateral frontal and orbital bar advancement and fixation using miniplates was done. Corrective hand surgery in the form of syndactyly release and grafting was performed for right upper limb. The child had an uneventful recovery. In conclusion, it can be said that both plain radiography and CT should be performed in patients presenting with craniosynostosis and corrective surgery should be undertaken at the earliest to ensure proper brain growth and spare them the trauma caused by mental retardation and physical disfigurement.

References

1Wheaton SM. Two specimens of congenital cranial deformity in infants associated with fusion of fingers and toe. Trans Pathol Soc 1894; 45: 238-241.
2Apert E. De l' acricephalosyndactylie. Bull Soc Med Hop Paris 1906; 23: 1310-1330.
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6Cohen MM Jr, Kreiborg S. The central nervous system in the Apert syndrome. Am J Med Genet 1990; 35 (1):36-45.
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8Cohen MM Jr, Kreiborg S. Skeletal abnormalities in the Apert syndrome. Am J Med Genet 1993; 47 (5): 624-632.