title: Langer's mesomelic dysplasia: a case report.
abstract: Langer's mesomelic dysplasia is a rare cause of disproportionate dwarfism. The affected children have a normal intellect and life span and are usually seen later in life for management of skeletal deformities. The diagnosis is usually established on clinical and anthropometric analyses supported with relevant radiological investigations. Plain radiographs and full-length scanograms are sufficient in establishing the diagnosis. Further genetic studies are sometimes performed for confirmation, as Leri Weill dyschondrosteosis and Langer's mesomelic dysplasia are inherited because of mutations in the short stature homeobox (SHOX) gene. The literature is sparse with less than a hundred cases reported, and this case adds to the available data on this rare syndrome.
authors.affiliation: Departments of aOrthopedics bRadiodiagnosis, Indira Gandhi Medical College, Shimla, India.
authors.forename: Vineet
authors.initials: V
authors.lastname: Aggarwal
authors.forename: Neeti
authors.initials: N
authors.lastname: Aggarwal
authors.forename: Bargavee
authors.initials: B
authors.lastname: Venkat
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006130:Growth Disorders / Q000000981:diagnostic imaging* / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D000074122:Short Stature Homeobox Protein; D014057:Tomography, X-Ray Computed
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein