A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment

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dc.authoridSigirci, Ahmet/0000-0001-9221-0002
dc.authoridÇamtosun, Emine/0000-0002-8144-4409
dc.authoridDemiral, Emine/0000-0002-7216-662X
dc.authorwosidSigirci, Ahmet/ABG-7387-2020
dc.authorwosidÇamtosun, Emine/AAE-3945-2020
dc.contributor.authorCamtosun, Emine
dc.contributor.authorAkinci, Aysehan
dc.contributor.authorDemiral, Emine
dc.contributor.authorTekedereli, Ibrahim
dc.contributor.authorSigirci, Ahmet
dc.date.accessioned2024-08-04T20:09:59Z
dc.date.available2024-08-04T20:09:59Z
dc.date.issued2019
dc.departmentİnönü Üniversitesien_US
dc.description.abstractCleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder that is characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature and other changes in skeletal patterning and growth. The gene responsible for pathogenesis has been mapped to the short arm of chromosome 6p21, core binding factor alpha-1 (CBFA1) or runt related transcription factor-2 (RUNX2). Here we describe a CCD patient with a novel mutation in the RUNX2 gene. A five-and-a-half year old girl presented with severe short stature, dysmorphic facial appearance (hypertelorism, prominent forehead, high palate, midfacial hypoplasia), macrocephaly, large anterior fontanelle, increased anteroposterior chest diameter. Her shoulders were close to each other and her bilateral clavicles appeared short on physical examination. Bilateral hypoplastic clavicles, coxa valga, hypoplasia of iliac bones, wide symphysis pubis and phalangeal dysplastic features were detected on her skeletal X-ray examination. She was diagnosed as having CCD. Molecular analysis detected a novel heterozygous mutation 'NM_001024630.3p.T155P(c.463A > C)' in the RUNX2 gene. At age seven years and two months old, because of her severe short stature, growth hormone (GH) treatment was started and she responded well to GH therapy with no adverse effects. In conclusion, hypoplasia or aplasia of the clavicles, failure of cranial suture closure, dental anomalies and short stature should bring CCD to mind. We present a novel mutation in the RUNX2 gene for CCD. We obtained growth velocity gain with GH treatment in our patient.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2018.2018.0211
dc.identifier.endpage305en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue3en_US
dc.identifier.pmid30468148en_US
dc.identifier.scopus2-s2.0-85071741788en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage301en_US
dc.identifier.trdizinid334433en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2018.2018.0211
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/334433
dc.identifier.urihttps://hdl.handle.net/11616/92544
dc.identifier.volume11en_US
dc.identifier.wosWOS:000484679800012en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCleidocranial dysplasiaen_US
dc.subjectRUNX2en_US
dc.subjectsevere short statureen_US
dc.titleA Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatmenten_US
dc.typeArticleen_US

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