title: Langer mesomelic dysplasia in early fetuses: two cases and a literature review.
abstract: In the article, we report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic dysplasia, a homozygous deletion of the 3' enhancer of the SHOX gene, and consanguineous parents affected by Léri-Weill dyschondrosteosis, performing a literature review of the primary forms of mesomelic dysplasia. A proper identification of the type of mesomelic dysplasia is important for genetic and reproductive counseling, estimation of child growth and prevention and/or treatment of complications. A competent pathologist could provide important diagnostic information, orienting or confirming the echographic or genetic suspect, sometimes suggesting diagnostic hypothesis concerning parental unidentified congenital syndromes.
authors.affiliation: Anatomia Patologica, Oncologia, Reggio Emilia, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Ambrosetti
authors.forename: Andrea
authors.initials: A
authors.lastname: Palicelli
authors.forename: Gaetano
authors.initials: G
authors.lastname: Bulfamante
authors.forename: Francesco
authors.initials: F
authors.lastname: Rivasi
mesh_terms: D000328:Adult; D003241:Consanguinity; D004742:Enhancer Elements, Genetic; D005260:Female; D005333:Fetus / Q000473:pathology; D006130:Growth Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D017384:Sequence Deletion; D000074122:Short Stature Homeobox Protein; D055815:Young Adult
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein