PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “CLEIDOCRANIAL DYSOSTOSIS”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed1997

Prenatal sonographic diagnosis of cleidocranial dysostosis.

Cleidocranial dysostosis is an autosomal dominant disorder characterized by absence or hypoplasia of the clavicles, skull abnormalities, and abnormal dentition. The prenatal diagnosis of this condition has been reported once previously in a known high-risk pregnancy. In this report we describe the prenatal findings of cleidocranial dysostosis at 19 weeks' gestation in a woman affected with this disorder but undiagnosed before the fetal scan. This report is unique in the sense that an autosomal dominant condition diagnosed in the fetus led to a similar diagnosis in the mother.

Adult↗
PubMed1989

[Cleidocranial dysostosis].

Cleidocranial dysostosis is a syndrome defined by some workers as "osteodental" insofar as it presents with variously associated skeletal and dental anomalies. The aetiology, clinical picture and pathological anatomy are analysed, stress being laid on dental anomalies and on dentoskeletal irregularities. Finally, two clinical cases observed in recent years at the University of Bari Odontostomatological Clinic are reported.

Child↗
PubMed2003

[Inter- and intrafamilial expression of cleidocranial dysostosis].

Cleidocranial dysplasia is a bony autosomal dominant disorder, defined by late closure of fontanels and sutures, clavicular aplasia or hypoplasia and supernumerary teeth. The aim of our study was to define the CBFA1 mutations in three families with cleidocranial dysplasia and to describe the phenotype expression within and between the families. While the mutation R225Q caused a similar phenotype within one family, the mutation G146R, located in the same domain, was the cause of a variable expression between two family members. A third mutation, R190Q was responsible for symptoms not commonly associated with this disorder. The results of our craniofacial examination are in agreement with the numerous descriptions in the literature. This study accents the difficulty in establishing a clinical based diagnosis due to the wide variability.

Cephalometry↗
PubMed1994

Prenatal diagnosis of cleidocranial dysostosis.

BACKGROUND: Cleidocranial dysostosis is an autosomal dominant disorder characterized by absent or hypoplastic clavicles and dysplasia of the osseous tissue in the cranium. CASE: We describe the prenatal diagnosis and neonatal evaluation of cleidocranial dysostosis in the pregnancy of a woman also affected with this disorder. CONCLUSION: The sonographic appearance of absent or hypoplastic clavicles, in the absence of other findings suggesting a skeletal dysplasia, strongly suggests the diagnosis of cleidocranial dysostosis. Nomograms are available to follow the growth and development of normal clavicles. Assessment of normal long-bone growth in relation to clavicular size may aid in the diagnosis.

Adult↗
PubMed2001

[MRI of the cerebellopontine angle in patients with cleidocranial dysostosis].

PURPOSE: Cleidocranial dysostosis (CCD) is an autosomal dominant bone disorder in which deafness is common secondary to malformation of the middle ear structures. The study aimed at MRI evaluation of the cerebellopontine angle in 7 patients with a history of CCD--two generation spanned relatives. MATERIAL AND METHODS: Cranial MRI in 7 patients with CCD (4 women/3 men aged between 8 and 46 years) was performed. In two patients hearing disorders were present. The examinations encompassed multi-planar spinecho sequences of the cerebellopontine angle in 3-mm slice thickness before and after administration of contrast medium. RESULTS: The clinically most conspicuous female patient (hearing loss, ataxia, headache) showed a strongly contrast-enhancing tumor in MRI that was histologically proved to be an acoustic schwannoma. Concerning the other family members, no pathological findings were noted except for non-pneumatized mastoids. CONCLUSION: The first report of a patient with CCD and an acoustic schwannoma shows that in case of hearing loss in these patients also a retrocochlear cause must be considered.

Adolescent↗
PubMed1981

Cephalometric findings in three cases of cleidocranial dysostosis.

Three cases of cleidocranial dysostosis, involving one boy and two girls 13 to 15 years of age, were analyzed cephalometrically. All the cases were characterized by real maxillary prominence in addition to mandibular prognathism. Although the skeletal development of the face in the present cases was atypical rather than typical of cleidocranial dysostosis, the possible individual variation should be noticed when a person with abnormal skeletal development is analyzed cephalometrically for diagnostic purposes.

Adolescent↗
PubMed1998

[Cleidocranial dysostosis. Presentation of a case].

INTRODUCTION: Cleidocranial dysostosis is a syndrome defined by three characteristic findings: clavicular aplasia, retarded cranial ossification, and autosomic dominant hereditary transmission, with completed penetrance and full expression. However, the diagnosis cannot only be made based on those finding, because the polymorphism and extension of the lesions of this disease is important. Therefore, in this disease we can see upset in the second teething, short stature or dwarf, persistence of the biconvex appearance of vertebral body, bone hypoplastic iliac, retarded pubis branch ossification, wedge shape distal phalanges or with brachymesophalangia of the forefinger and fifth finger. CLINICAL CASE: We describe a 20 years old man, with cleidocranial dysostosis, without familiar antecedent (probable mutation), that come to our center for treatment of denture pathology with disabled eating, because anomalous distribution and eruption. He had clavicle agenesis, cranial ossification upset with wormian bones, vertebral bodies biconvex, superior maxillary hypoplastic, and dental packed in the superior maxillary and jawbone. CONCLUSIONS: Cleidocranial dysostosis is a hereditary disease, which can be of spontaneous apparition (mutation), has a grand polymorphism, affect the osseous development, predominate in the middle line membranous bone and is an entity of radiologic diagnosis.

Adult↗
PubMed1980

Oral surgical management of cleidocranial dysostosis.

A patient with cleidocranial dysostosis is presented to further support the early active surgical management of the dental complications of this disease. There is good evidence to show that the permanent teeth have the ability to erupt once the deciduous dentition, supernumeraries, and overlying alveolar bone are removed. The aetiology of this failure of eruption is considered to be an abnormality in alveolar bone remodelling, compounded by overactivity of the dental lamina. The clinical experience gained from this patient substantiates this theory.

Adolescent↗
PubMed1979

Pili multigemini. Report of a case in association with cleidocranial dysostosis.

A patient with cleidocranial dysostosis developed extensive pili multigemini over the heavily bearded chin and cheek areas. Histological examination of serial sections revealed complicated follicular structures forming from two to as many eight hair shafts. Each hair is formed by a single branch of dermal papilla which is surrounded by all layers present in a normal follicle except for the outer root sheath cells. The outer root sheath surrounds the entire follicle. Irregularities in configuration of the hairs, longitudinal grooving and areas of bifurcation and re-adhesion of the hair shafts are demonstrated.

Adult↗
PubMed1975

The association of cleidocranial dysostosis with hearing loss.

Three new cases of cleidocranial dysostosis with hearing loss are reported in this paper. The significant points concerning this association are: (1) the hearing deficit is predominantly a middle ear conduction problem secondary to structural abnormalities of the ossicles; (2) there is sometimes a small bone conduction deficit indicating either a cochlear or an eighth nerve problem; (3) the middle ear hearing loss was corrected surgically in one reported case; (4) there is dense sclerosis of the temporal bone which makes a middle ear operation technically difficult; and (5) hearing loss with cleidocranial dysostosis may be more common than the number of cases in the literature suggests.

Adult↗
PubMed1981

Abnormalities of the cranial base in cleidocranial dysostosis.

The purpose of the present investigation was to describe the size, shape, and morphologic characteristics of the cranial base in adult patients with cleidocranial dysostosis in an attempt to contribute to an improved understanding of the syndrome. The sample comprised seventeen patients with cleidocranial dysostosis, eight males and nine females aged 16 to 46 years. The morphology was evaluated from lateral cephalometric radiographs and midsagittal tomograms of the cranial base. The size of the anterior and posterior cranial base and the cranial base angle were compared to normative data. In addition, a qualitative screening for abnormal morphologic traits in the cranial base was carried out. The anterior and posterior cranial base was significantly shorter and the cranial base angle smaller in the syndrome groups than in the control groups. Patients with cleidocranial dysostosis exhibited high frequencies of anomalous traits in the cranial base, the most striking being a distortion of the clivus. In 82 percent the clivus was flexed, with the convexity toward the endocranium. All patients exhibited bulbous dorsum sellae, and 47 percent had small pituitary fossae. It is suggested that bone remodeling showed less resorption than normal in the craniofacial region of patients with cleidocranial dysostosis.

Adolescent↗
PubMed1987

[A case of cleidocranial dysostosis associated with arachnoid cyst].

Cleidocranial dysostosis (CCD) is a rare congenital disorder characterized by the heredity, the disturbance of the ossification of the skull and clavicles, and dental anomaly. The entity of CCD was established by Marie and Sainton in 1898. In Japan about 150 cases have been reported since Haneda's first report in 1933. Recently we experienced a rare case of CCD associated with the temporal arachnoid cyst. The patient was a 61-year-old male who had suffered from mild spastic paresis of the left upper extremity since his childhood. One morning he suddenly noticed motor weakness of the left upper and lower extremities and was transferred to our hospital. On admission we observed the left hemiparesis (MMT 3/5), the left central type facial palsy, and the left long tract signs. Physical examination disclosed frontal bossing, depression of the forehead, sloped shoulders, cone-shaped thorax, and thoracic scoliosis. Plain skull radiograph showed persistent metopic suture and frontal fontanelle, many wormian bones around coronal and lambdoid sutures. Plain radiographs of the systemic bones also showed typical features of CCD such as dysplasia of the lateral third of the bilateral clavicles, deformities of the cervical vertebral bodies, thoracic scoliosis, and wide symphysis. CT scan disclosed the right putaminal hemorrhage, the right temporal arachnoid cyst, enlargement of the right middle fossa, thinning of the temporal bone adjacent to the arachnoid cyst. It also showed the atrophy of the right cerebral peduncle and midbrain. Surgical treatment was performed to remove the hematoma and release the cyst. Several neurological disorders associated with CCD have been reported such as epilepsy, mental retardation, spastic paresis etc.(ABSTRACT TRUNCATED AT 250 WORDS)

Arachnoid↗
PubMed1987

Congenital pseudarthrosis of the tibia associated with cleidocranial dysostosis and osteogenesis imperfecta. A case report.

A neonatal boy with cleidocranial dysostosis presented with congenital pseudarthrosis of the tibia. Clinical observation later revealed he also had osteogenesis imperfecta. The osteogenesis imperfecta was classified as Type I and the congenital tibial pseudarthrosis as Type II. Cleidocranial dysostosis, osteogenesis imperfecta, and congenital pseudarthrosis of the tibia have not been previously reported to coexist in one individual.

Abnormalities, Multiple↗
PubMed1977

Mandibular prognathism and apertognathia associated with cleidocranial dysostosis in a father and son.

No reports to date have described apertognathia as an associated finding of cleidocranial dysostosis. The case of a patient with prognathism and apertognathia associated with cleidocranial dysostosis is reported. Periodontal, restorative, prosthetic, and oral surgical services were necessary to rehabilitate this patient orofacially. A review of the syndrome and of the patient's familial history is presented.

Adult↗
PubMed1987

The surgical and orthodontic management of unerupted teeth in cleidocranial dysostosis.

A common feature of patients with cleidocranial dysostosis is delayed shedding of deciduous teeth and failure of eruption of the permanent dentition. This article describes a method whereby orthodontic forces may be applied to these unerupted permanent teeth to move them into a satisfactory functional and aesthetic position with good periodontal support whilst maintaining their vitality. This method of treatment avoids the need for overdentures or other prosthetic aids which have often been used in the past.

Adolescent↗
PubMed1976

[Contribution to the clinical picture and hereditary nature of cleidocranial dysostosis].

In the light of 5 cases and of the relevant literature, the author discusses the clinical picture, inheritance and treatment of cleidocranial dysostosis. It is stated that, though the manifestations of cleidocranial dysostosis are varied, this disease is in most cases characterized by a sagittal frontal sulcus with partially closed frontal fontanel and hypertelorism. The author pleady for the regular medical supervision of these patients.

Abnormalities, Multiple↗