A Cleidocranial Dysplasia Case with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment
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چکیده
منابع مشابه
Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia
Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...
متن کاملAcromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment
Hyung Suk Jin, M.D., Ho young Song, M.D., Sung Yoon Cho, M.D., Chang-Seok Ki, M.D., Song Hyun Yang, Ph.D., Ok-Hwa Kim, M.D., and Su Jin Kim, M.D. Green Cross Laboratories, Yongin; Department of Pediatrics, Myongji Hospital, Seonam University College of Medicine, Goyang; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Laboratory ...
متن کاملFamilial Cleidocranial Dysplasia in a Neonate: A Case Report
Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...
متن کاملManifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
Cleidocranial dysplasia is an autosomal dominant heritable skeletal disorder. The characteristic features of cleidocranial dysplasia (CCD) may include hypoplasia of the clavicle, delayed closure of frontanelles, late tooth eruption, and other skeletal disorders. This case report describes clinical and radiographic manifestations at the age of 11 and 29 of a CCD patient, investigates the mutatio...
متن کامل[Cleidocranial dysplasia: a case report].
A 3-month-old female infant who presented with patent sagittal suture and loss of weight is described. Physical examination revealed a large sagittal and metopic suture showing delayed closure, a high-arched palate, saddle nose, hypertelorism and nonpalpable edges of the bilateral clavicles. The clavicles also showed undue mobility. Radiological investigations of the cranial skeletal abnormalit...
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ژورنال
عنوان ژورنال: Journal of Clinical Research in Pediatric Endocrinology
سال: 2018
ISSN: 1308-5727
DOI: 10.4274/jcrpe.0211