A yearold caucasian boy with cleidocranial dysplasia. Cleidocranial dysplasia ccd is a rare congenital disorder with prolonged retention of the primary teeth, unerupted permanent teeth, and supernumerary teeth. Since concurrent spinal deformities are of progressive nature, surgical treatment may be necessary. The clavicular abnormality may range from a small defect in one clavicle to complete absence of both, but most frequently an absence of the central clavicular segment, as was seen in our patient. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles cleido in the condition name refers to these bones. It causes facial and oral abnormalities, resulting in difficult airway management and neuraxial anesthesia. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. A case report illustrating diagnostic clinical and radiological findings. We initiated an antiepileptic treatment for this patient with dose adjustments to her weight of levetiracetam 10 mgkg, bid for 3 months. Clinical and radiological spectrum of cleidocranial dysplasia. A case report kalyan chakravarthy konda, devendar katkuri, kasi viswanath reddy, joshua rajan x, leslie edward lewis department of pediatrics, kasturba medical college, manipal university, karnataka, india abstract background. Case report open access cleidocranial dysplasia syndrome with epilepsy. Of particular interest to us as dentists are disturbances of the skull and tooth development. Diagnostic imaging and clinical manifestations are discussed.
Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero. Though it is not a very uncommon occurrence, its histopathological features are not frequently reported. A 15 yearold girl with cleidocranial dysplasia ccd presented in this article, had. This disease is caused by mutations in the c10fa1, also called runx2. Ccd is caused by mutation in the gene on 6p21 encoding transcription. Remodeling of teeth as aesthetic restorative treatment. Clinical and radiological findings in a severe case of. Cleidocranial dysostosis is a generalised dysplasia of bone and teeth with predominantly autosomal dominant inheritance. This case report describes the treatment and longterm followup care of a patient diagnosed with cleidocranial dysplasia who had multiple impacted permanent and supernumerary teeth. Cleidocranial dysplasia is characterized by anomalies of the thorax, spine, pelvis and extremities. Cleidocranial dysostosis ccd, also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. This gene mutation affects bones undergoing intramembranous.
Cleidocranial dysplasia presenting with retained deciduous. The cleidocranial dysplasia is a rare disease which can occur either spontaneously or by a dominant autosomal inheritance, with no predilection of genre or ethnic group. The treatment of cleidocranial dysostosis scheuthauer. Ccd appears spontaneously with no apparent genetic cause in approximately 40% of affected. This gene gives the body instructions to make a protein used in the development and maintenance of bone and cartilage. Because of the advanced age of the patient and contraindication for orthodontic treatment, only surgical and prosthetic treatment were performed. Pdf cleidocranial dysplasia ccd is a rare autosomal dominant skeletal disease. Cleidocranial dysplasia ccd is an uncommon disorder associated with a genetic disorder mainly causing dysplasia of bones and teeth with autosomal dominant inheritance pattern, which has an extremely varied presentation.
This is a trait with high penetrance and marked variability of expression. This rare disease can occur spontaneously or by an autosomal dominant inheritance pattern, with no predilection of genre or ethnic group. Cleidocranial dysplasia also known as marie and saintons disease is a rare autosomal dominant disorder affecting bones and teeth 1,4. It primarily affects bones which undergo intramembranous ossification. Cleidocranial dysplasia is a rare condition with an incidence of one in one million births. It affects men and women with equal frequency 1, 2, 4 and is characterized by abnormalities of skull, dentition, jaws and clavicle. Cleidocranial dysplasia a rare case report nagaraj, et al. We report a case of cleidocranial dysplasia because of its rarity. In addition the patient presented with clinical and radiological findings consistent with a congenital disorder of cleidocranial dysplasia. This paper presents a similar case with complete clinical, radiological, histological. The dental indicators are principally delayed exfoliation of primary teeth and delayed eruption of permanent teeth, and numerous impacted supernumeraries. Autosomal dominant, marie and sainton disease, mutational dysostosis, cleidocranial.
Herein, we present a case of a 10yearold girl, who not only suffered with cleidocranial dysplasia, but experienced frequent seizures. Case report open access cleidocranial dysplasia with growth hormone deficiency. Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Anesthetic management during a cesarean section in a. Cleidocranial dysplasia ccd, is an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals. The odontologist is, most of the times, the first professional who patients look for to solve the problem, since there is a delay in the eruption and or an absence of permanent teeth. A case report case report 4 introduction cleidocranial dysplasia ccd is a rare dominantly inherited autosomal bone disease that is characterized by delayed closure of fontanelles, presence of open skull sutures, hypoplastic or aplastic clavicles, supernumerary teeth, delayed. Cleidocranial dysplasia ccd is a rare congenital autosomal dominant skeletal disorder. Importance of radiographic images in diagnosis of the condition. It is generally characterized by orofacial manifestations, including enamel hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth.
In addition to other orthopedic problems, possible accompanying. Cleidocranial dysplasia is very rare in occurrence, incidence being 1. A case report article pdf available in journal of clinical research in pediatric endocrinology 23. Cleidocranial dysplasia is a rare autosomal dominant disorder resulting in skeletal and dental abnormalities due to the disturbance in ossification of the bones. Here, we report a case of ccd in a 17yearold female without any family history who presented with the complaint of missing teeth. A case report cleidocranial dysplasias is an autosomal dominant disorder that presents with skeletal dysplasia. Unusual method to relief dentalcorrea abraheao and, beatriz da rocha miranda venturi fivefluorouracil 5fu is an antimetabolite drug used in the treatment of various cancers, including. Radiological investigations of her cranial and skeletal abnormalities revealed cleidocranial dysplasia. Cleidocranial dysplasia is an autosomaldominant condition characterised by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth and short stature. A 16yearold girl was admitted to our hospital because of several missing teeth and tooth irregularity. Cleidocranial dysplasia is a type of skeletal dysplasia, which is primarily characterized by delayed ossification of skeletal structures. Functional analysis of runx2 mutations in japanise patients with cleidocranial dysplasia demonstrates novel genotype. Cleidocranial dysostosis is a skeletal dysplasia inherited in an autosomal dominant manner and may lead to complications such as scoliosis and kyphosis, concurrent with various orthopedic involvements. The patient showed incomplete development of cranial bones, bellshaped.
This article discusses the case of a 55yearold man suffering from mild neck pain and chronic sinusitis. Yoshida t,kanegane h,osato m,yanagida m,miyawaki t,ito y,shigesada k. This condition is of clinical significance to dentistry due to the involvement of the facial bones. Delayed closure of the anterior fontanelle and of metopic sutures causes frontal bossing. Cleidocranial dysplasia ccd is a rare congenital disorder with an autosomal dominant inheritance. A rare case report priyanka minocha, anita choudhary, sadasivan sitaraman department of paediatrics, sawai man singh medical college and hospital, jaipur, rajasthan, india. Cleidocranial dysplasia with neonatal death due to central. Early craniofacial signs of cleidocranial dysplasia. Cleidocranial dysplasia is a rare autosomal dominant disorder affecting skull, jaws, teeth, clavicle along with other skeletal abnormalities. Cleidocranial dysplasia genetics home reference nih. Cleidocranial dysplasia with growth hormone deficiency.
Cleidocranial dysplasia ccd is a rare inherited skeletal dysplasia. Cleidocranial dysplasia ccd is a rare congenital autosomal. The patient was a 24yearold primipara height 8 cm, weight 42 kg with a hypoplastic right clavicle, patent. A 3 year old patient, who was clinica lly diagnosed with ccd since birth. Cleidocranial dysplasia a case report allied academies. Dental management of dysostosis cleidocranialiscase report. Cleidocranial dysplasia is a rare congenital defect of autosomal dominant inheritance caused by mutations in the cbfa1 gene, also called runx2, located on the short arm of chromosome 6. Cleidocranial dysplasia ccd is a rare skeletal disorder with autosomal dominant inheritance that is. The cleidocranial dysplasia is a rare disease which can occur either spontaneously or by a dominant autosomal inheritance, with no predilection of. Cleidocranial dysplasia ccd is a wellknown, congenial, developmental disorder that primarily affects bones undergoing intramembranous ossification i. Faculty of medicine, university of cartagena colombia cdepartment of pediatrics. Though the first description of cleidocranial dysostosis is credited to meckle in 1760, the combination of clavicular and cranial defects was identified by scheuthauer in 1871. Cleidocranial dysplasia ccd is a rare congenital autosomal dominant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones.
Cleidocranial dysostosis is a congenital condition that results from faulty development of membranous bones, mainly the clavicles and skull. Researchers believe that the runx2 protein acts like a switch that regulates other genes involved in the development of cells that build bones. Cleidocranial dysplasia ccd is typically caused by changes mutations in the runx2 gene. The successful treatment involving a timing intervention orthodonticmaxillofacial surgeons. The disorder is caused by heterozygosity of mutations in human runx2, which is present on the short arm of chromosome 6p21. Since early diagnosis of cleidocranial dysplasia is essential for initiating the appropriate treatment approach, clinicians should be aware of the characteristic features. Cleidocranial dysplasia ccd is a rare dominantly inherited autosomal bone disease that is characterized by delayed closure of fontanelles, presence of open skull sutures, hypoplastic or aplastic clavicles, supernumerary teeth, delayed eruption of permanent dentition, wide pubic symphysis, short stature and a variety of other skeletal changes.
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