Abstract
An: 2017, Nr.2, Articol Nr. 14
Title: 

CLEIDOCRANIAL DYSPLASIA: A CASE REPORT

Authors: 

      Lăcrămioara Ionela Butnariu, Cristina Rusu, Monica Pânzaru, Lavinia Caba, Roxana Popescu, Eusebiu Vlad Gorduza - University of Medicine and Pharmacy “Grigore T. Popa” Iaşi, Medical Genetics Department
      CLEIDOCRANIAL DYSPLASIA: A CASE REPORT (Abstract): Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia, determined by RUNX2 gene mutation (located on 6p21.1) encoding the transcription factor CBFA1 which has a major role in regulation of bone differentiation. The major clinical features include the presence of wide-large fontanels at birth, short stature and other skeletal abnormalities (brachydactyly, pes planus, genu valgum, scoliosis). Patients often have recurrent respiratory infections and a normal intellect. The disease has a high penetrance and variable expressivity, some patients presenting subtle clinical signs of the disease. We present a patient, L. E., male, diagnosed with cleidocranial dysplasia at the age of 8 years. The history revealed a delayed closure of the anterior fontanel (2 years and 6 months); at the age of 5 years the patient has been diagnosed with pituitary dwarfism and rickets. Clinical examination revealed: short stature, craniofacial dysmorphism (frontal bossing, delayed tooth eruption, agenesis of premolars), sloping shoulders, pectus excavatum, brachydactyly, pes planus and hypoplastic nails feet. Chest X-ray and thorax CT scan revealed the presence of bilateral clavicular hypoplasia and cranial MRI scan revealed the presence of a pituitary hypoplasia, frontal sinus agenesis and hypoplasia of the maxillary sinus. Hand X-ray revealed a delayed bone age. The treatment was symptomatic involving growth hormone replacement therapy and orthodontic, orthopedic and pediatric care. In conclusion, we emphasize the importance of clinical and radiological examination to achieve early diagnosis, to establish an appropriate treatment and prevention of complications of the disease.
Key words: CLEIDOCRANIAL DYSPLASIA, CLAVICULAR HYPOPLASIA, LARGE FONTANELS, DENTAL ABNORMALITIES
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