{"id":"https://openalex.org/W4414101582","doi":"https://doi.org/10.36106/paripex/5401080","title":"LANGER'S MESOMELIC DYSPLASIA (LMD): A RARE SKELETAL DYSPLASIA DISORDER","display_name":"LANGER'S MESOMELIC DYSPLASIA (LMD): A RARE SKELETAL DYSPLASIA DISORDER","publication_year":2025,"publication_date":"2025-08-15","ids":{"openalex":"https://openalex.org/W4414101582","doi":"https://doi.org/10.36106/paripex/5401080"},"language":"en","primary_location":{"id":"doi:10.36106/paripex/5401080","doi":"https://doi.org/10.36106/paripex/5401080","is_oa":true,"landing_page_url":"https://doi.org/10.36106/paripex/5401080","pdf_url":"https://doi.org/10.36106/paripex/5401080","source":{"id":"https://openalex.org/S2765053643","display_name":"PARIPEX-INDIAN JOURNAL OF RESEARCH","issn_l":"2250-1991","issn":["2250-1991"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320570","host_organization_name":"World Wide Journals","host_organization_lineage":["https://openalex.org/P4310320570"],"host_organization_lineage_names":["World Wide Journals"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PARIPEX INDIAN JOURNAL OF RESEARCH","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.36106/paripex/5401080","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5119583700","display_name":"Kuldip Savaliya","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kuldip Savaliya","raw_affiliation_strings":["3 Year Postgraduate, Department of Pediatrics, PDU Govt. Medical College, Rajkot,Gujarat"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"3 Year Postgraduate, Department of Pediatrics, PDU Govt. Medical College, Rajkot,Gujarat","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5119583701","display_name":"Kuldip Rajvi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kuldip Rajvi","raw_affiliation_strings":["3 Year Postgraduate, Department of Pediatrics, PDU Govt. Medical College, Rajkot,Gujarat"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"3 Year Postgraduate, Department of Pediatrics, PDU Govt. Medical College, Rajkot,Gujarat","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027778717","display_name":"Karnam Aparna","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Aparna K","raw_affiliation_strings":["3 Year Postgraduate, Department of Pediatrics, PDU Govt. Medical College, Rajkot,Gujarat"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"3 Year Postgraduate, Department of Pediatrics, PDU Govt. Medical College, Rajkot,Gujarat","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.2184688,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"28","last_page":"28"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9907000064849854,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9907000064849854,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.0044999998062849045,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.002400000113993883,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.9520000219345093},{"id":"https://openalex.org/keywords/limb-shortening","display_name":"limb shortening","score":0.7229999899864197},{"id":"https://openalex.org/keywords/madelung-deformity","display_name":"Madelung deformity","score":0.9909999966621399},{"id":"https://openalex.org/keywords/brachydactyly","display_name":"brachydactyly","score":0.996999979019165},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.9120000004768372},{"id":"https://openalex.org/keywords/growth-hormone-therapy","display_name":"growth hormone therapy","score":0.8870000243186951},{"id":"https://openalex.org/keywords/multidisciplinary-management","display_name":"multidisciplinary management","score":0.781000018119812},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.8349999785423279}],"concepts":[{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.7179999947547913},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6815000176429749},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.5735999941825867},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.5544000267982483},{"id":"https://openalex.org/C68312169","wikidata":"https://www.wikidata.org/wiki/Q216685","display_name":"Orthopedic surgery","level":2,"score":0.4668000042438507},{"id":"https://openalex.org/C2910508087","wikidata":"https://www.wikidata.org/wiki/Q4941552","display_name":"Skeletal disorder","level":3,"score":0.39079999923706055},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3824000060558319},{"id":"https://openalex.org/C36454342","wikidata":"https://www.wikidata.org/wiki/Q245341","display_name":"Radiography","level":2,"score":0.329800009727478},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.31690001487731934},{"id":"https://openalex.org/C74231797","wikidata":"https://www.wikidata.org/wiki/Q14905160","display_name":"GNAS complex locus","level":3,"score":0.296099990606308},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.29350000619888306},{"id":"https://openalex.org/C2779571254","wikidata":"https://www.wikidata.org/wiki/Q625935","display_name":"Hip dysplasia","level":3,"score":0.2806999981403351},{"id":"https://openalex.org/C2779778371","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital disorder","level":2,"score":0.27649998664855957},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.26989999413490295}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.36106/paripex/5401080","doi":"https://doi.org/10.36106/paripex/5401080","is_oa":true,"landing_page_url":"https://doi.org/10.36106/paripex/5401080","pdf_url":"https://doi.org/10.36106/paripex/5401080","source":{"id":"https://openalex.org/S2765053643","display_name":"PARIPEX-INDIAN JOURNAL OF RESEARCH","issn_l":"2250-1991","issn":["2250-1991"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320570","host_organization_name":"World Wide Journals","host_organization_lineage":["https://openalex.org/P4310320570"],"host_organization_lineage_names":["World Wide Journals"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PARIPEX INDIAN JOURNAL OF RESEARCH","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.36106/paripex/5401080","doi":"https://doi.org/10.36106/paripex/5401080","is_oa":true,"landing_page_url":"https://doi.org/10.36106/paripex/5401080","pdf_url":"https://doi.org/10.36106/paripex/5401080","source":{"id":"https://openalex.org/S2765053643","display_name":"PARIPEX-INDIAN JOURNAL OF RESEARCH","issn_l":"2250-1991","issn":["2250-1991"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320570","host_organization_name":"World Wide Journals","host_organization_lineage":["https://openalex.org/P4310320570"],"host_organization_lineage_names":["World Wide Journals"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PARIPEX INDIAN JOURNAL OF RESEARCH","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.8560000061988831,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4414101582.pdf","grobid_xml":"https://content.openalex.org/works/W4414101582.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2899084033","https://openalex.org/W2748952813","https://openalex.org/W3031052312","https://openalex.org/W4389568370","https://openalex.org/W3032375762","https://openalex.org/W1995515455","https://openalex.org/W2080531066","https://openalex.org/W3108674512","https://openalex.org/W1506200166","https://openalex.org/W1489783725"],"abstract_inverted_index":{"Langer's":[0],"Mesomelic":[1],"Dysplasia":[2],"(LMD)":[3],"is":[4],"a":[5,32],"rare":[6],"autosomal":[7],"recessive":[8],"skeletal":[9],"disorder":[10],"characterized":[11],"by":[12],"disproportionate":[13],"shortening":[14],"of":[15,31,102],"mesomelic":[16,47],"and":[17,42,52,57],"acromelic":[18],"limb":[19,43],"segments":[20],"due":[21,80],"to":[22,81,99],"mutations":[23],"in":[24,104],"the":[25,29,90],"SHOX":[26,61,82],"gene.We":[27],"present":[28],"case":[30,88],"4-":[33],"year-old":[34],"female":[35],"who":[36],"presented":[37],"with":[38],"severe":[39],"short":[40],"stature":[41],"deformities.Clinical":[44],"evaluation":[45],"revealed":[46],"shortening,":[48],"Madelung":[49],"deformity,":[50],"brachydactyly,":[51],"joint":[53],"movement":[54],"restriction.":[55],"Radiographic":[56],"genetic":[58,95],"investigations":[59],"confirmed":[60],"gene":[62],"mutation.":[63],"Management":[64],"was":[65],"multidisciplinary,":[66],"focusing":[67],"on":[68],"orthopedic":[69],"correction,":[70],"physiotherapy,growth":[71],"monitoring,and":[72],"psychological":[73],"support.Growth":[74],"hormone":[75],"therapy":[76],"showed":[77],"limited":[78],"benefit":[79],"deficiency\u2013related":[83],"growth":[84],"plate":[85],"resistance.":[86],"This":[87],"emphasizes":[89],"need":[91],"for":[92],"early":[93],"diagnosis,":[94],"counseling,and":[96],"supportive":[97],"interventions":[98],"improve":[100],"quality":[101],"life":[103],"affected":[105],"individuals.":[106]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2025-10-10T00:00:00"}