|Year : 2016 | Volume
| Issue : 3 | Page : 76-79
A rare case of beaten copper skull pattern associated with Treacher Collins syndrome
Sunita Gupta1, Anju Garg2, Khusboo Singh1, Sinny Goel1
1 Department of Oral Medicine and Radiology, Maulana Azad Institute of Dental Sciences, New Delhi, India
2 Department of Radiodiagnosis, Maulana Azad Medical College, New Delhi, India
|Date of Web Publication||21-Dec-2016|
Department of Oral Medicine and Radiology, Maulana Azad Institute of Dental Sciences, New Delhi - 110 002
Source of Support: None, Conflict of Interest: None
Treacher Collins syndrome (TCS) is an autosomal dominant disorder with craniofacial abnormality. Typical features are downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. Management requires a multidisciplinary team from birth through adulthood with proper planning, counselling, and surgical techniques. Here, we present a case of TCS with a very unusual and rare finding of beaten copper skull appearance on the radiograph.
Keywords: Beaten copper skull, face, Treacher Collins syndrome
|How to cite this article:|
Gupta S, Garg A, Singh K, Goel S. A rare case of beaten copper skull pattern associated with Treacher Collins syndrome. J Oral Maxillofac Radiol 2016;4:76-9
|How to cite this URL:|
Gupta S, Garg A, Singh K, Goel S. A rare case of beaten copper skull pattern associated with Treacher Collins syndrome. J Oral Maxillofac Radiol [serial online] 2016 [cited 2020 Oct 26];4:76-9. Available from: https://www.joomr.org/text.asp?2016/4/3/76/196354
| Introduction|| |
Treacher Collins syndrome (TCS) (mandibulofacial dysostosis) was named after the eminent British ophthalmologist Edward Treacher Collins (1862-1932), who described the essential features of this syndrome in 1900.  However, some features of this syndrome were probably first described by Thomson and Toynbee in 1846-1847 and later by Berry in 1889, who is usually given credit for its description.  Prevalence of TCS is in the range of 1 per 25000 to 1 in 50000 live births.  The syndrome has no race predilection; males and females are equally affected. Growth of craniofacial structures derived from the first and second pharyngeal arch, groove, and pouch is diminished symmetrically and bilaterally. The condition is recognizable at birth and can also be diagnosed prenatally based on ultrasonography findings.  Management of this condition is lengthy and requires a multidisciplinary approach focused on treatment of symptoms.  Here, we report a rare case of TCS with an atypical radiographic finding of beaten copper pattern (BCP) of skull bones.
| Case Report|| |
A 14-year-old female patient reported to the outpatient department of a tertiary care centre with complaint of unaesthetic facial appearance. On extraoral examination, there was hypertelorism and antemongoloid, laterally downward slanting palpebral fissures, hypoplastic mandible with deep antegonial notches and sunken zygomatic bones [Figure 1]. At lateral aspect of eyelid, scarring was present because of previous history of suturing. Malformed ears, depressed zygomatic arches, and retruded chin were present [Figure 2]a and b. Impaired hearing through left ear since birth was also reported. There was no mental impairment. Intraoral examination revealed crowding in maxillary anterior teeth, high arched palate, and caries with respect to 16, 17, and 27 [Figure 3]. Panoramic radiograph showed short rami with deep antegonial notch and underdeveloped condylar and coronoid process of mandible on both sides [Figure 4]. Water's view revealed hypoplastic maxillary sinuses and beaten copper appearance of skull [Figure 5]. Computed tomography (CT) revealed facial and calvarial deformity with asymmetry, deformity of face with hypoplastic maxillary sinus, cleft palate [Figure 6]a, BCP of skull bones in the temporal region [Figure 6]b, and absence of zygomatic process of temporal bones bilaterally [Figure 7]. There was no history of similar features in any family member. Based on the examination and radiographic findings, diagnosis of TCS associated with BCP was made.
|Figure 1: Frontal facial view shows malar and mandibular hypoplasia, hypertelorism, and antemongoloid slant of palpebral fissures bilaterally|
Click here to view
|Figure 2: (a and b) Lateral profile facial view reveal bilateral bird face appearance with deformed pinna (microtia) and retrognathism|
Click here to view
|Figure 3: Intraoral view showing crowding in anterior teeth and high arched palate|
Click here to view
|Figure 5: Paranasal sinus view revealing bilateral hypoplastic maxillary sinuses. Copper beaten appearance of bones of cranial vault is also noted|
Click here to view
|Figure 6: Coronal (a) and axial (b) sections through face and skull reveal a midline defect in hard palate, suggestive of cleft palate and prominent convolutional markings along the inner table of skull in bilateral temporal region giving copper beaten appearance|
Click here to view
|Figure 7: (a and b) Three‑dimensional computed tomography reconstruction of facial skeleton reveal maxillary and mandibular hypoplasia, deficient zygomatic arch, and atresia of external auditory canal bilaterally|
Click here to view
| Discussion|| |
TCS is an autosomal dominant disorder, with complete penetrance and variable expressivity. The syndrome is caused by mutations in the TCOF1 gene, which codes for the treacle protein, required for normal craniofacial development.  The characteristic abnormalities are usually present bilaterally and symmetrically. The typical facial features are hypoplastic supraorbital rims, zygoma and mandible, downward-sloping palpebral fissures, coloboma of eyelids, malformed and crumpled pinnae, with varying severity consistent with the present case findings.  Cleft palate is found in one-third of patients resulting in swallowing and feeding difficulties, although in our case submucosal cleft was present. Conductive hearing loss and impaired vision occur almost invariably. This type of hearing loss is caused by maldevelopment of the auditory canal and middle ear ossicles. Impaired vision is caused by underdeveloped lateral orbit and extraocular muscles. However, in our case, conductive hearing loss was present unilaterally with normal vision. Although intelligence is usually normal, the patient was developmentally delayed with below normal intelligence and reading-writing skills were affected, as described in a study by Van Der Meulen et al. 
Radiographically, the malar bones, zygomatic process of frontal bone, lateral pterygoid plates, paranasal sinuses, and mandibular condyles and coronoid processes are hypoplastic with deficient mandibular ramus and obtuse mandibular angle, however, in our case zygomatic process of temporal bone was completely absent bilaterally. 
The calvaria are essentially normal, however, prominent convolutional markings were seen in the skull bones in the parietal region giving BCP in the present case, which is the result of sagittal suture synostosis with increased anteroposterior diameter and reduced lateral diameter, as seen in the present case.  BCP is thought to be caused by increased intracranial pressure resulting from such processes as craniosynostosis, obstructive hydrocephalus, and increased intracranial masses. This is the result of a growing brain which exerts pressure on the malleable cranium, producing a pattern of multiple radiolucencies appearing as depressions of the inner surface of the cranial vault known as the BCP. These convolutional markings may be normal during periods of rapid brain growth between age 2 and 3 and 5 and 7 years.  BCP becomes less prominent after approximately 8 years of age. However, craniosynostosis may appear later in childhood resulting in midfacial hypoplasia and hypertelorism. Although initially patients do not display manifestations of craniosynostosis, as sutures are open in infancy, but later, multiple suture craniosynostosis occurs, which is frequently associated with subsequently increased intracranial pressure, with devastating consequences, such as developmental delay.  Van Der Meulen et al.  had also reported negative influence on the more subtle areas of development, such as reading, spelling, and behavior in patients having BCP, similar to the present reported case. Normal intelligence levels have earlier been seen in the cases reported as TCS, which might be because of the absence of BCP, and hence, craniosynostosis in the previously reported cases. 
BCP is also usually associated with Crouzon syndrome, Pfeiffer syndrome, Apert syndrome, Cohen syndrome, Carpenter syndrome, and Saethre-Chotzen syndrome.
Hence, this case signifies the association of a rare radiographic finding of BCP with TCS. Although normal below the age of 5-6 years, this appearance usually occurs due to craniosynostosis or hydrocephalus. Hence, we recommend skull radiography with evaluation for the BCP in each case of TCS.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Collins TE. Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans Opthalmol Soc UK 1900;20:90.
Gorlin RJ, Cohen MM Jr, Hennekam RC. Syndromes of the head and neck. 4 th
ed. London: Oxford University Press; 2001.
Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics 2004;114:889-94.
Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, et al
. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A 1997;94:3110-5.
Van der Meulen J, Van der Vlugt J, Okkerse J, Hoffman B. Early beaten-copper pattern: Its long term effect on intelligence quotients in 95 children with craniosynostosis. J Neurosurgery Pediatri 2008;1:25-30.
Desai V, Priyadarshini SR, Sharma R. Copper Beaten Skull! Can it be a Usual Appearance? Int J Clin Pediatr Dent 2014;7:47-9.
Gleeson GG, Dobyns WB, Plawner L, Ashwal S. Congenital structural defects. In: Swaiman KF, Ashwal S, Ferriero DM, editors. Pediatric Neurology: Principles and practice. 4 th
ed. Mosby: Philadelphia; 2006. p. 363-490.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]