BRIEF REPORTS

Cleidocranial Dysplasia investigations, yet retrospective exami- nation revealed the presence of classical features(2,3). Therefore, although there is a chance of missing the diagnosis clin- ically, yet a high index of suspicion and Anita Sharma confirmation by characteristic radiologi- cal features could help in making the Rohtash Yadav b Kuldip Ahlawat diagnosis. Case Report

A 4-year-old first born male child of non-consanguineous Hindu parents was Cleidocranial dysplasia (CCD), is brought with the complaints of short characterized by short stature, typical stature and abnormal head shape. On facial features and variable degree of examination weight was 13 Kg (25th pan-skeletal anomalies affecting centile), height 87.5 cm (<10th centile) and clavicle(l). It is a relatively and head circumference was 50.7 cm underdiagnosed entity and due to its (between 75th to 90th centile). The child clinical features can be mistaken for a had brachycephalic skull; pronounced number of other conditions (e.g., frontal and parietal bossing; widely Noonan syndrome, Turner's syndrome, open anterior fontanella and sutures; hypothyroidism and other skeletal dys- small face; ; depressed na- plasia), before the diagnosis is con- sal bridge; high arched palate and malar firmed radiologically(2). Three cases of hypoplasia. He had broad neck, sloping CCD have been reported in Indian liter- of (Fig. 7) and ature where a variety of conditions have of shoulders (mother was aware of it). been considered and diagnosis was fi- The child had 20 primary teeth without nally confirmed radiologically(2,3). One any abnormality or history of delayed more case is being described who had erruption. His physical develop- been diagnosed and treated twice for ment, intelligence, hearing, spine and rickets before he was referred to us. This rest of the systemic examination were case is being reported to highlight that normal. His radiological examination CCD should be considered in the showed missing of lateral half of clavi- differential diagnosis of short stature cle on both sides; (Fig. 2); with features of skeletal immaturity. multiple wormian with widely Although in all the reported conditions open sutures; underdeveloped para- diagnosis was made after radiological nasal sinuses (Fig. 3), absent pulic rami and ; and hypoplastic ischial From the Departments of -JI and bones (Fig. 4). Radiodiagnosis, Medical College, Rohtak. Reprint requests: Dr. Anita Sharma, 39/9J, Discussion Medical Enclave, Rohtak 124 001. Received for publication: May 6,1994; Cleidocranial was first Accepted: October 4, 1994

588 VOLUME 32 -MAY 1995

mation, to dysplasia meaning abnormal tissue development, thereby reflecting the more generalized nature of the dis- ease process(5). It affects bones of intramembranous origin and endochon- dral formation of long bones in most of the skeleton are affected(6). There is a generalized failure of mid- line resulting in patent fontanella, metopic suture, , nasal deformity, non-union of mandibular symphysis, high arched pal- ate, cleft palate, hypoplasia or absence of , spina bifida and delayed closure of (7). All these features were observed in the present case. The most characteristic and pathognomic skeletal feature is that one or both clavicles are frequently partially or in 10% cases completely absent(8,9). Usually rudimentary sternal and acromial stubs are present and the mid- clavicular position is absent. Clavicular deformity along with the dysplastic muscle attachments give rise to elongated neck, narrow drooping and hypermobility of shoulders with ten- dency to approximate shoulders anteri- orly(8). is the first bone to be ossified in the 6th week of fetal life and is thus the most often affected bone(8). Other abnormalities can be short cranial base; hypoplastic maxillary, lacrimal and zygomatic bones and subsequent paranasal sinuses. Reported vertebral abnormalities are , , , and vertebral (8,9). It has been reported that should be considered in any patient of CCD with any neurologi- cal symptoms, progressive scoliosis not responding to conservative surgery, or

589

progressive scoliosis after skeletal matu- with dental abnormalities. Children ration(9). These features were not may have an initial normal or delayed present in this case. primary dentition. However, later on It is a relatively benign condition due to retention of deciduous teeth, and the patient can seek medical help slow development of succedaneous for short stature; dental abnormalities; dentition, multiple impacted permanent ; complications during child and supernumerary teeth they can have birth and dislocation of . The final prosthetic rehabilitation problem, infec- height attained by these children is sig- tions of tooth and jaw with tendency of nificantly lower than their normal coun- pathologic fractures(8). In the present terparts(7). Although psychosocial dis- case no dental abnormalities were orders associated with abnormal facial present. and body features may occur, patients The etiology of CCD is unknown. It have normal intelligence, with a overall can have dominant and recessive pat- good prognosis and normal life expect- tern of inheritance and 16% patients are ancy(8,9). reported to be sporadic(10).

Often these patients initially present Because of its benign nature, CCD is

590 Fig. 3. X-ray skull (lateral) showing widely open sutures and wormian bones perhaps an under reported entity(2). It 2. Mehta L, Verma 1C. Cleidocranial dys- should be considered in the differential plasia under-diagnosed and misdiag- diagnosis of short stature with skeletal nosed. Indian J Pediatr 1992, 59: 633- immaturities like abnormally large 642. fontanella and wormian bones. Relevant 3. DeNQAgchiAB, Singh J,Sikund KK. clinical examination should include . Indian Pediatr 1981,18: 495. palpation of clavicles. 4. Martin S. Sur Undepacement natural REFERENCES de la clavicle. J Med Chir Pharmacol 1765, 23: 456. 1. Marie P, Sainton P. Sur La dysostose cleidocranienne hereditaire. Rev 5. Sillence DO, Ritchie HE, Selby PB. An- Neurol 1898, 6: 835. imal model; skeletal anomalies in mice

591

with cleiciocranial dysplasia. Am J sia. J Oral Maxillofac Surg 1991, 49: Med Genet 1987,27; 75. 405-409. 6. Short DW. A case of craniocleidal 9. Dore DD, MacEven GD, Boulos MI. dysostosis presenting with vascular Cleidocranial dysostosis and syringo- complications. Br J Surg 1979, 66: 596. melia. Clin Orthop Rel Res 1987, 214: 7. Jensen B. Somatic development in 229-234. cleidocranial dysostosis. Am J Med 10. Forland M. Cleidocranial dysostosis: A Genet 1990, 35: 69-74. review of the syndrome and report 8. Nebgen D, Wood RS, Shapiro RD. of a sporadic case with hereditary Management of a mandibular fracture transmission. Am J Med 1962,33: 792- in a patient with cleidocranial dyspla- 799.

592