Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review.
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ABSTRACT:
SUBMITTER: Xue R
PROVIDER: S-EPMC8498102 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:A 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 OBJECTIVE:To present the clinical manifestations, diagnostic imaging and treatment modalities along with dermatoglyphics in CCD patients. CONCLUSION:Cleidocranial 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:BACKGROUND:Cleidocranial 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 PRESENTATION:Herein, 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. CONCLUSIONS:In 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.
| S-EPMC6452517 | biostudies-literature
Project description:BACKGROUND:Cleidocranial 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 PRESENTATION:At 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. CONCLUSION:A 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:Graves disease or other causes of thyrotoxicosis are frequently associated with cytopenia. Although anemia is the most common, other cell lineage can be affected. Pancytopenia is a rare complication of thyrotoxicosis.We report a case of a 33-year-old Chinese man who presented a nonsevere pancytopenia in the context of a newly diagnosed Graves disease. Restauration of euthyroid state led to progressive correction of pancytopenia.Literature review shows other rare cases of pancytopenia. It is usually nonsevere with just extremely rare cases of transfusion reported. Evolution was always favorable after achievement of euthyroid state. Its mechanism remains poorly understood, especially because those patients have no vitamin or iron deficiency. The exact physiopathological process remains unclear but 2 causes seem to overlap: reduced production of hematopoietic cells from the bone marrow and increased destruction or sequestration of mature hematopoietic cells. Despite unclear mechanism, the presence of hematologic abnormalities including pancytopenia must not be considered as a contraindication to antithyroid drug therapy.
| S-EPMC6069025 | biostudies-other
Project description: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.
| S-EPMC9547988 | biostudies-literature
Project description:Background:Clinicians must maintain an index of suspicion to diagnose an anorectal foreign body (FB). The patient may not be forthcoming with information secondary to embarrassment or possibly psychiatric issues. Providers must express empathy and compassion while maintaining nonjudgmental composure. Despite accounts of anal FB insertion, this pathology is lacking level one evidence-based surgical algorithms. Case presentation:A 46-year-old male psychiatric patient presented in septic shock, complaining of lower abdominal/pelvic pain starting 1 week prior. His past medical history was significant for schizophrenia, bipolar disorder, and noncompliance with medications. CT of the abdomen/pelvis revealed a rectal perforation with free air and a FB which appeared to be a screwdriver. Fluid resuscitation and broad-spectrum antibiotics were administered. In the operating room, after unsuccessful transrectal removal, an exploratory laparotomy was performed. The metallic end of the screwdriver had perforated the rectosigmoid. Resection of the perforated rectum with removal of the screwdriver, incision and drainage of a large right buttock abscess and colostomy was performed. The patient recovered and was discharged to behavioral health. At 2 weeks follow-up the patient was doing well with a functioning colostomy and reversal was planned for later this year. Conclusion:This case highlights the importance of maintaining a high index of suspicion when encountering psychiatric patients with nonspecific lower abdominal or anorectal pain with inconsistent presentations. Controversy exists regarding the type of surgical treatment in case of anorectal perforation. More research is needed to provide surgeons with evidence-based standardized methods for dealing with these rare pathologies.
| S-EPMC6804320 | biostudies-literature
Project description:OBJECTIVE:To report the case of a child who developed acute respiratory distress syndrome (ARDS) from a pulmonary infection by adenovirus. CASE DESCRIPTION:A female patient aged 2 years and 6 months, weighting 10,295 grams developed fever, productive cough and vomiting, later on progressing to ARDS despite initial therapy in accordance with the institutional protocol for ARDS treatment. The child evolved to refractory hypoxemia and hypercapnia, requiring high parameters of mechanical pulmonary ventilation and use of vasoactive agents. In the treatment escalation, the patient received steroids, inhaled nitric oxide (iNO), was submitted to the prone position, started oscillatory high-frequency ventilation (HFOV) and extracorporeal membrane oxygenation (ECMO) was indicated due to severe refractory hypoxemia. During this time, the patient's clinical response was favorable to HFOV, improving oxygenation index and hypercapnia, allowing the reduction of vasoactive medications and mechanical ventilation parameters, and then the indication of ECMO was suspended. The patient was discharged after 26 days of hospital stay without respiratory or neurological sequelae. COMMENTS:Adenovirus infections occur mainly in infants and children under 5 years of age and represent 2 to 5% of respiratory diseases among pediatric patients. Although most children with adenovirus develop a mild upper respiratory tract disease, more severe cases can occur. ARDS is a serious pulmonary inflammatory process with alveolar damage and hypoxemic respiratory failure; Adenovirus pneumonia in children may manifest as severe pulmonary morbidity and respiratory failure that may require prolonged mechanical ventilation. Exclusive pulmonary recruitment and HFOV are advantageous therapeutic options.
| S-EPMC7077792 | biostudies-literature
Project description:We report the case of a 58-year-old female presenting with central airway obstruction leading to airway compromise thrice, first two times from endobronchial growth of typical carcinoid tissue and subsequently from granulation tissue at anastomotic site after left carinal pneumonectomy. Bronchoscopic resection of carcinoid tumor and granulation tissue was performed successfully with electrosurgical snaring through rigid bronchoscope. Cryodebridement using flexible cryoprobe of the tumor was done postembolization and of the remnant granulation tissue without any complication. A multimodality approach is required for favorable outcome as observed in this case.
| S-EPMC6120316 | biostudies-literature
Project description:Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.
| S-EPMC4693694 | biostudies-other
Project description:Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies have investigated RUNX2 mutation effects on non-skeletal systems. Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene.A 58 year-old man presented with progressive back pain and six months of weakness in the proximal parts of all four limbs. Physical examinations showed that he was short in stature (height, 164.4 cm; weight, 79.1 kg) with a dysmorphic face, including hypertelorism, midface hypoplasia, and chin protrusion. At a young age, he had received orthodontic surgery, due to dental abnormalities. Neurological examinations revealed sloping shoulders, weakness, and atrophy in the proximal areas of the arms, shoulder girdle muscles, and legs. The deep tendon reflex and sensory system were normal. Radiological examinations revealed mild scoliosis, shortened clavicles, and a depressed skull bone, which were consistent with a clinical diagnosis of CCD. Electromyography (EMG) studies showed myogenic polyphasic waves in the deltoid, biceps brachii, and rectus femoris muscles. Instead, the EMG findings were normal in the first dorsal interosseous, tibialis anterior and facial muscles. The EMG findings were compatible with a limb-girdle pattern with facial sparing. The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness. We sequenced the RUNX2 gene and discovered a heterozygous missense mutation (c.G674A, p.R225Q), which altered the C-terminal end of the RUNX2 protein. This mutation was predicted to inactivate the protein and might affect its interactions with other proteins. This mutation co-segregated with the disease phenotypes in the family.We described limb-girdle myopathy in a patient with CCD that carried a heterozygous RUNX2 missense mutation. This uncommon phenotype expanded the phenotypic spectrum of the RUNX2 p.R225Q mutation. The role of RUNX2 in myogenic development merits future studies. Our findings remind clinicians that myopathic patients with myopathies combined with facial dysmorphism and shortened clavicles should consider the diagnosis of CCD.
| S-EPMC5216594 | biostudies-literature