Cleidocranial dysplasia: a case report of a rare anomaly

Abstract

Cleidocranial dysplasia (CCD) is a rare hereditary disease of unknown etiology which was previously known as cleidocranial dysotosis. It usually follows an autosomal dominant mode of transmission. The phenotype is characterized by general dysplastic bone formation manifested by abnormalities in the shoulder girdle, skull, jaw and dentition. We report a case of a six year old female child presenting with classical features of CCD. An outstanding feature of this case is that it did not follow a familial pattern of inheritance since the patient is the only member in the family suffering from such disorder. The clinician should be aware of the characteristic features of CCD for early diagnosis and initiating the appropriate treatment. The clinical, radiological findings and its embryological cause are discussed. DOI: http://dx.doi.org/10.3126/njms.v1i2.6615 Nepal Journal of Medical Sciences. 2012;1(2): 135-7

A Case of Cleidocranial Dysplasia with Historical and Current Review

“…CCD has been described by many authors and over a period of time the changes have been well documented. The facial features have been similar to our patient as reported in the literature [17,20,21]. There is a strong mention of large open frontanelles with prominent forehead and decreased mid facial growth as was seen in our case.…”

“…These patients have normal IQ as was seen in our patient and the secondary growth characters were normal as it is evident from his growth of mustache, hairs on other parts of body apart from a detailed history given by the patient of normal growth in secondary sexual characteristics. There is a generalized failure midfacial growth as seen in our case leading to patent fontanella, metopic suture, wormian bones, nasal deformity [17,20,21]. Apart from these there are reports of certain changes like non-union of mandibular symphysis, high arched palate, cleft palate, spina bifida and delayed closure of pubic symphysis which was not seen in our case and this can be due to his increased age which allowed the closure of most of the sutures making the bone remain Wormian in close to suture areas [22].…”

“…Added to this there are reports of frontal depression due to improper or incomplete closure of frontal suture. Most of the literature has cases reported in the early childhood [20,21] while our case was of a 17 year old patient. There are different instances of patient ability to bring his shoulders forward and since our patient was old he was not able to join the shoulders but was able to bring it abnormally forward and this can be due to his increase age and fusion of other chest bones as evident from the chest radiograph.…”

Cleidocranial dysplasia: Two unique cases

“…CCD was fi rst described in 1765 by Martin [4] and since then it is recognized as Marie and Sainton disease, mutational dysostosis, and cleidocranial dysostosis. [8] There is no sex or ethnic group predilection.…”

“…[3] CCD is a rare syndrome with a prevalence of 0.5/100,000 live births. [4] The characteristic features of CCD are clavicular aplasia, excessive development of the transverse diameter of the cranium, delayed closure of the fontanells, and disorders of the jaws and dentition, [5] which lead to introduction of term "dysostose cléidocrânienne héréditaire" (cleidocranial dysostosis) by Marie and Sainton in 1898. [3] Since, CCD shows generalized dysplasia of bones and teeth "dysplasia" is more appropriate instead of "dysostosis".…”