Cleidocranial dysplasia-A case report of incidentally found and lately diagnosed disorder.
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ABSTRACT:
SUBMITTER: Adhikari A
PROVIDER: S-EPMC9547988 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
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Cleidocranial dysplasia-A case report of incidentally found and lately diagnosed disorder.
Adhikari Aayush A Shrestha Suraj S Bhattarai Prabin P Khanal Surendra S Lamichhane Rajan R Balayar Ramesh R Panta Sobin S Marasini Kundan K
Clinical case reports 20221008 10
Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder with facial, dental, and skeletal impairments. Affected individuals have varying degrees of skull, shoulder, dental, spine, and facial impairments. Early diagnosis and timely intervention help in minimization of complications, planning of pregnancy, and better quality of life. ...[more]
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Project description:BackgroundA family case report of cleidocranial dysplasia (CCD) with varied manifestations from father to three siblings is presented. CCD ( MIM # 119600) is a rare autosomal dominant skeletal dysplasia caused by CBAF1 gene ( OMIM 600211) with a wide range of variability. In all the cases generalized dysplasia in bone, prolonged retention of primary teeth and delayed eruption of permanent teeth were evident. Interestingly, there were no supernumerary teeth present. There was mandibular prognathism which was intercepted by occipital chin cup therapy.Aims and objectiveTo present the clinical manifestations, diagnostic imaging and treatment modalities along with dermatoglyphics in CCD patients.ConclusionCleidocranial dysplasia is an uncommon disorder however its clinical and radiological features are characteristic. In addition the CCD patients may be distinguished by specific dermatoglyphic markers. It carries with it several implications in terms of complications like skeletal malocclusion, dental caries, etc. Medical treatment is mainly directed at orthopedic and dental correction. A team approach to the management of dental abnormalities on a long-term basis with the overall goal to provide an esthetic facial appearance and functioning occlusion by late adolescence or early adulthood should be focused.
| S-EPMC4086567 | biostudies-literature
Project description:BackgroundCleidocranial dysplasia is a rare autosomal dominant disorder resulting in skeletal and dental abnormalities due to the disturbance in ossification of the bones. The prevalence of CCD is one in a million of live births, and epileptic seizures are rarer in this disease.Case presentationHerein, we present a case of a 10-year-old girl, who not only suffered with cleidocranial dysplasia, but experienced frequent seizures. We initiated an anti-epileptic treatment for this patient with dose adjustments to her weight of levetiracetam (10 mg/kg, bid) for 3 months. The epileptic seizures were controlled, but the intelligence level and control of epilepsy need to be followed up for a longer duration.ConclusionsIn clinical practice, if a patient has unusual facies, typical clavicle defect, skull bone enlargement, and unclosed anterior fontanelle, we should consider the possibility of cleidocranial dysplasia, genetic detection are helpful to make a confirmed diagnosis. In such cases, early diagnosis and treatment is important to correct deformities and improve the quality of life of patients.
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Project description:BackgroundCleidocranial dysplasia (CCD) is a rare skeletal disorder with autosomal dominant inheritance that is characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature, among other features. The responsible gene for CCD is RUNX2 located on the short arm of chromosome 6p21. In general, there are intrafamilial variations in height among CCD patients. Few studies have reported data on recombinant human growth hormone (rhGH) treatment for patients with CCD; thus, it remains to be elucidated whether rhGH treatment can improve short stature. Here, we report a case of a 6-year-old girl with CCD who has growth hormone deficiency (GHD) and a novel mutation of RUNX2.Case presentationAt 5 years of age, this patient was diagnosed with GHD and rhGH treatment was initiated. Thereafter, she was diagnosed with CCD due to the presence of hypoplastic clavicles and an open fontanelle, which was also observed in her mother and brother. She responded well to rhGH treatment; her height improved from - 3.2 SD to - 2.4 SD after 13 months.ConclusionA detailed patient history and physical examination are necessary for the early diagnosis of CCD. Similarly, to ascertain the effect of rhGH treatment, careful evaluation of the patient's final height post-therapy is needed.
| S-EPMC6966812 | biostudies-literature
Project description:Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature, supernumerary teeth, and sinus and middle ear infections. It is caused by Runt-related transcription factor 2 (RUNX2; OMIM 600211) mutations. Herein, we present a rare case of CCD with neonatal respiratory distress, who had abnormal midfacial features and wide fontanelle. Also, pectus excavatum was noted. He was transferred to our department, administered standard medical treatment, and discharged after 4 weeks. Therefore, we recommend the early suspicion and identification of this rare inherited disease to adequate treatment.
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Project description:We present a 4-year-old girl with persistent anterior fontanelle and narrow sloping shoulders. The X-ray imaging revealed widely open anterior fontanelle, supernumerary teeth, and absence of clavicles. Therefore, the diagnosis was cleidocranial dysplasia, which is a rare autosomal dominant skeletal disease, caused by the mutation in the gene on 6p21 encoding transcription factor CBFA1 (runt-related transcription factor 2-RUNX2). The girl remains under close surveilance, her anterior fontanelle closed spontaneously at the age of 9 years.
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Project description:A HIV-infected female treated with a combination of emtricitabine/elvitegravir/tenofovir since 2017 presented an acute renal failure during her hospitalization for a SARS-CoV2 pneumonia. A computed tomography demonstrated left ureterohydronephrosis and ureteral stone. Fragments extracted by ureteroscopy showed a calculus composed of atazanavir and calcium oxalate. The patient's medical history showed atazanavir intake during ten years and then discontinued in 2017. This case report emphasizes that drug-induced urolithiasis should be considered when renal function declines, even far from discontinuation of atazanavir and without clinical signs of renal colitis. Moreover, identification of risk factors should alert to the possibility of drug-induced nephrolithiasis.
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Project description:Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD is caused by the mutation of RUNX2/CBFA1 present in the short arm of chromosome 6 at position 21.1, a transcription factor essential for the formation of teeth, cartilage and bone. Patients with CCD show the classical features of excessive mobility of the shoulder bone, lack of resorption of the deciduous teeth, failure to erupt permanent teeth, multiple impacted and supernumerary teeth, and open fontanelle and sutures of the skull. In this article we report a case of CCD in a 16-year-old male patient, with an aim to highlight the clinical, radiological and recommended treatment guidelines.
| S-EPMC6254376 | biostudies-literature
Project description:Cleidocranial dysplasia (CCD) is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected individuals are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Treatment of CCD requires a multidisciplinary approach that may include dental corrections, orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enables application of the treatment strategy that provides the best quality of life to such patients. Notably, Runx2 gene mutations have been identified in CCD patients. Therefore, further elucidation of the molecular mechanism of supernumerary teeth formation related to Runx2 mutations may improve understanding of dental development in CCD. The insights into CCD pathogenesis may assist in the development of new treatments for CCD.
| S-EPMC6395362 | biostudies-literature
Project description:Background: Cleidocranial dysplasia (CCD) is a rare, autosomal dominant skeletal dysplasia with a prevalence of one per million births. The main causes of CCD are mutations in the core-binding factor alpha-1 (CBFA1) or runt-related transcription factor-2 (RUNX2), located at the 6p21 chromosomal region. RUNX2 plays important roles in osteoblast differentiation, chondrocyte proliferation and differentiation, and tooth formation. The disease is characterized by clavicular aplasia or hypoplasia, Wormian bones, delayed closure of cranial suture, brachycephalic head, maxillary deficiency, retention of primary teeth, inclusion of permanent teeth, and multiple supernumerary teeth. Materials and Methods: A 22-year-old girl suffering from cleidocranial dysplasia with short stature, narrow shoulders, craniofacial manifestations (short face, broad forehead, etc.) and dental anomalies (different lower dental elements under eruption, supernumerary and impacted multiple teeth, etc.) was examined at our service (Complex Operative Unit of Odontostomatology of Policlinico of Bari). RX Orthopantomography (OPG) and cone beam computed tomography (CBCT) were requested to better assess the position of the supernumerary teeth and their relationships with others and to evaluate the bone tissue. Results: Under eruption was probably caused by dental interferences with supernumerary teeth; hence, extractions of supernumerary upper canines and lower premolars were performed under general anaesthesia. Surgery outcome was excellent with good tissue healing and improvements in the therapeutic possibilities with future orthodontics. Conclusions: The objective of this article is to give an update about radiological, clinical, and molecular features of CCD and to alert the health team about the importance of establishing an early diagnosis and an appropriate treatment in these patients to prevent impacted teeth complications and to offer them a better quality of life.
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Project description:Hyperreactio luteinalis (HL) is a rare pregnancy-related condition in which the ovaries become massively enlarged bilaterally, occupied by multiple benign theca lutein cysts, secondary to increased ovarian stimulation by beta-human chorionic gonadotropin (B-hCG). HL should resolve spontaneously postpartum, however, their occurrence has led some physicians unfamiliar with the natural history of the condition to perform unnecessary ovarian cystectomies or oophorectomies. A healthy 32-year-old woman was incidentally found to have new onset multicystic ovaries on ultrasound at 31 + 3 weeks gestational age, which continued to enlarge, with a maximum volume of ∼448.0 cm3 and ∼323.5 cm3 in right and left ovaries, respectively. She also developed signs and symptoms of hyperandrogenism, and later abdominal pain which ultimately expedited delivery. This paper demonstrates that familiarity with HL as a clinical entity, its typical presentation and natural history, and targeting conservative management is paramount in minimizing iatrogenic harm by obstetricians given the increased use of ultrasound in pregnancy. Patients presenting after the first trimester with bilateral multicystic ovaries with a "spoke wheel" appearance on ultrasound, hyperandrogenism, abnormally elevated B-hCG, or symptoms consistent with elevated B-hCG should prompt a possible diagnosis.
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