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Cleidocranial Dysplasia: Report of 3 Cases and Literature Review
Background Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. It is caused by mutations of the transcription factor RUNX2, which is known as a majo...
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| Published in: | Clinical Pediatrics 2009-03, Vol.48 (2), p.194-198 |
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| container_end_page | 198 |
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| container_title | Clinical Pediatrics |
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| creator | Shen, Zheng Zou, Chao Chun Yang, Rong Wang Zhao, Zheng Yan |
| description | Background Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. It is caused by mutations of the transcription factor RUNX2, which is known as a major regulator of bone differentiation.
Objective To report on 3 Chinese pediatric cases of CCD with an emphasis on the clinical presentation and diagnostic modalities.
Case Summary 3 Chinese children were admitted to our hospital because of short stature. All the children had hypoplastic clavicles, absent calvarium, open fontanel, and messy palmprint. Screening laboratory test results for bone mineral density, free thyroxine, and thyroid stimulating hormone were all normal. One child had mental retardation. Two were hereditary, and 1 was sporadic.
Conclusion These results showed that CCD should be suspected in patients with short stature and poor clavicles, calvarium, or teeth. Timely recognition and hereditary tendency counseling is required and useful. |
| doi_str_mv | 10.1177/0009922808323107 |
| format | article |
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Objective To report on 3 Chinese pediatric cases of CCD with an emphasis on the clinical presentation and diagnostic modalities.
Case Summary 3 Chinese children were admitted to our hospital because of short stature. All the children had hypoplastic clavicles, absent calvarium, open fontanel, and messy palmprint. Screening laboratory test results for bone mineral density, free thyroxine, and thyroid stimulating hormone were all normal. One child had mental retardation. Two were hereditary, and 1 was sporadic.
Conclusion These results showed that CCD should be suspected in patients with short stature and poor clavicles, calvarium, or teeth. Timely recognition and hereditary tendency counseling is required and useful.</description><identifier>ISSN: 0009-9228</identifier><identifier>EISSN: 1938-2707</identifier><identifier>DOI: 10.1177/0009922808323107</identifier><identifier>PMID: 18832541</identifier><language>eng</language><publisher>Los Angeles, CA: SAGE Publications</publisher><subject>Bone dysplasia ; Bone mineral density ; Cbfa-1 protein ; Child ; Child, Preschool ; Children ; China ; Clavicle - abnormalities ; Clavicle - diagnostic imaging ; Cleidocranial Dysplasia - diagnosis ; Cleidocranial Dysplasia - genetics ; Cranial sutures ; Craniofacial syndromes ; Female ; Genetic Counseling ; Humans ; Hypoplasia ; Literature reviews ; Male ; Parietal Bone - abnormalities ; Parietal Bone - diagnostic imaging ; Radiography ; Skeleton ; Supernumerary ; Teeth ; Thyroid ; Thyroid gland ; Thyroxine</subject><ispartof>Clinical Pediatrics, 2009-03, Vol.48 (2), p.194-198</ispartof><rights>Copyright Westminster Publications, Inc. Mar 2009</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c394t-393848aec3c74674387136e4967e96c21b169874b3da5a9540832e047039b15d3</citedby><cites>FETCH-LOGICAL-c394t-393848aec3c74674387136e4967e96c21b169874b3da5a9540832e047039b15d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>313,314,780,784,792,27922,27924,27925,79364</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18832541$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shen, Zheng</creatorcontrib><creatorcontrib>Zou, Chao Chun</creatorcontrib><creatorcontrib>Yang, Rong Wang</creatorcontrib><creatorcontrib>Zhao, Zheng Yan</creatorcontrib><title>Cleidocranial Dysplasia: Report of 3 Cases and Literature Review</title><title>Clinical Pediatrics</title><addtitle>Clin Pediatr (Phila)</addtitle><description>Background Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. It is caused by mutations of the transcription factor RUNX2, which is known as a major regulator of bone differentiation.
Objective To report on 3 Chinese pediatric cases of CCD with an emphasis on the clinical presentation and diagnostic modalities.
Case Summary 3 Chinese children were admitted to our hospital because of short stature. All the children had hypoplastic clavicles, absent calvarium, open fontanel, and messy palmprint. Screening laboratory test results for bone mineral density, free thyroxine, and thyroid stimulating hormone were all normal. One child had mental retardation. Two were hereditary, and 1 was sporadic.
Conclusion These results showed that CCD should be suspected in patients with short stature and poor clavicles, calvarium, or teeth. Timely recognition and hereditary tendency counseling is required and useful.</description><subject>Bone dysplasia</subject><subject>Bone mineral density</subject><subject>Cbfa-1 protein</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>China</subject><subject>Clavicle - abnormalities</subject><subject>Clavicle - diagnostic imaging</subject><subject>Cleidocranial Dysplasia - diagnosis</subject><subject>Cleidocranial Dysplasia - genetics</subject><subject>Cranial sutures</subject><subject>Craniofacial syndromes</subject><subject>Female</subject><subject>Genetic Counseling</subject><subject>Humans</subject><subject>Hypoplasia</subject><subject>Literature reviews</subject><subject>Male</subject><subject>Parietal Bone - abnormalities</subject><subject>Parietal Bone - diagnostic imaging</subject><subject>Radiography</subject><subject>Skeleton</subject><subject>Supernumerary</subject><subject>Teeth</subject><subject>Thyroid</subject><subject>Thyroid gland</subject><subject>Thyroxine</subject><issn>0009-9228</issn><issn>1938-2707</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><recordid>eNqFkc1Lw0AQxRdRbK3ePUlA8BadyW72w5MSP6EgiJ7DJplKSprE3UTpf29CC4ognuYwv_dm3gxjxwjniEpdAIAxUaRB84gjqB02RcN1GClQu2w6tsOxP2EH3i8BkEPM99kE9SCIBU7ZVVJRWTS5s3Vpq-Bm7dvK-tJeBs_UNq4LmkXAg8R68oGti2BeduRs1zsagI-SPg_Z3sJWno62dcZe725fkodw_nT_mFzPw5wb0YV8WEtoSznPlZBKcK2QSxJGKjIyjzBDabQSGS9sbE0sxkgEQgE3GcYFn7GzjW_rmveefJeuSp9TVdmamt6nUgGiMeZfMAIZGwQ5gKe_wGXTu3oIkaKJtESO8UjBhspd472jRdq6cmXdOkVIxyekv58wSE62xn22ouJbsL36AIQbwNs3-jH1L8MvGaeKHQ</recordid><startdate>200903</startdate><enddate>200903</enddate><creator>Shen, Zheng</creator><creator>Zou, Chao Chun</creator><creator>Yang, Rong Wang</creator><creator>Zhao, Zheng Yan</creator><general>SAGE Publications</general><general>Westminster Publications, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7QR</scope><scope>7T5</scope><scope>7TK</scope><scope>7U9</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>NAPCQ</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>200903</creationdate><title>Cleidocranial Dysplasia: Report of 3 Cases and Literature Review</title><author>Shen, Zheng ; Zou, Chao Chun ; Yang, Rong Wang ; Zhao, Zheng Yan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c394t-393848aec3c74674387136e4967e96c21b169874b3da5a9540832e047039b15d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Bone dysplasia</topic><topic>Bone mineral density</topic><topic>Cbfa-1 protein</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>China</topic><topic>Clavicle - abnormalities</topic><topic>Clavicle - diagnostic imaging</topic><topic>Cleidocranial Dysplasia - diagnosis</topic><topic>Cleidocranial Dysplasia - genetics</topic><topic>Cranial sutures</topic><topic>Craniofacial syndromes</topic><topic>Female</topic><topic>Genetic Counseling</topic><topic>Humans</topic><topic>Hypoplasia</topic><topic>Literature reviews</topic><topic>Male</topic><topic>Parietal Bone - abnormalities</topic><topic>Parietal Bone - diagnostic imaging</topic><topic>Radiography</topic><topic>Skeleton</topic><topic>Supernumerary</topic><topic>Teeth</topic><topic>Thyroid</topic><topic>Thyroid gland</topic><topic>Thyroxine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shen, Zheng</creatorcontrib><creatorcontrib>Zou, Chao Chun</creatorcontrib><creatorcontrib>Yang, Rong Wang</creatorcontrib><creatorcontrib>Zhao, Zheng Yan</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical Pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shen, Zheng</au><au>Zou, Chao Chun</au><au>Yang, Rong Wang</au><au>Zhao, Zheng Yan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cleidocranial Dysplasia: Report of 3 Cases and Literature Review</atitle><jtitle>Clinical Pediatrics</jtitle><addtitle>Clin Pediatr (Phila)</addtitle><date>2009-03</date><risdate>2009</risdate><volume>48</volume><issue>2</issue><spage>194</spage><epage>198</epage><pages>194-198</pages><issn>0009-9228</issn><eissn>1938-2707</eissn><abstract>Background Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. It is caused by mutations of the transcription factor RUNX2, which is known as a major regulator of bone differentiation.
Objective To report on 3 Chinese pediatric cases of CCD with an emphasis on the clinical presentation and diagnostic modalities.
Case Summary 3 Chinese children were admitted to our hospital because of short stature. All the children had hypoplastic clavicles, absent calvarium, open fontanel, and messy palmprint. Screening laboratory test results for bone mineral density, free thyroxine, and thyroid stimulating hormone were all normal. One child had mental retardation. Two were hereditary, and 1 was sporadic.
Conclusion These results showed that CCD should be suspected in patients with short stature and poor clavicles, calvarium, or teeth. Timely recognition and hereditary tendency counseling is required and useful.</abstract><cop>Los Angeles, CA</cop><pub>SAGE Publications</pub><pmid>18832541</pmid><doi>10.1177/0009922808323107</doi><tpages>5</tpages></addata></record> |
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| ispartof | Clinical Pediatrics, 2009-03, Vol.48 (2), p.194-198 |
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| language | eng |
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| subjects | Bone dysplasia Bone mineral density Cbfa-1 protein Child Child, Preschool Children China Clavicle - abnormalities Clavicle - diagnostic imaging Cleidocranial Dysplasia - diagnosis Cleidocranial Dysplasia - genetics Cranial sutures Craniofacial syndromes Female Genetic Counseling Humans Hypoplasia Literature reviews Male Parietal Bone - abnormalities Parietal Bone - diagnostic imaging Radiography Skeleton Supernumerary Teeth Thyroid Thyroid gland Thyroxine |
| title | Cleidocranial Dysplasia: Report of 3 Cases and Literature Review |
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