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 skull 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; hypertelorism; 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 shoulders (Fig. 7) and hypermobility 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 tooth 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; spina bifida (Fig. 2); with features of skeletal immaturity. multiple wormian bones 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 symphysis; and hypoplastic ischial From the Departments of Pediatrics-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 dysostosis 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 bone formation of long bones in most of the skeleton are affected(6). There is a generalized failure of mid- line ossification resulting in patent fontanella, metopic suture, wormian bones, nasal deformity, non-union of mandibular symphysis, high arched pal- ate, cleft palate, hypoplasia or absence of clavicles, spina bifida and delayed closure of pubic symphysis(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). Clavicle 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 scoliosis, kyphosis, lordosis, and vertebral synostosis(8,9). It has been reported that syringomyelia 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 hearing loss; complications during child and supernumerary teeth they can have birth and dislocation of joints. 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 Cleidocranial dysostosis. 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. 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