title: Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation.
abstract: A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fibula, abnormal ankles, abnormal calcaneus and talus and pes equinus. They had normal craniofacial features, normal intelligence and normal chromosomes. We concluded that this skeletal dysplasia resembles the autosomal dominant mesomelic dysplasia, Kantaputra type. Prenatal diagnosis by ultrasound examination early in the pregnancy was possible. We found no evidence for a SHOX gene deletion or point mutation. As far as we know this is the third reported family with this skeletal dysplasia.
authors.affiliation: Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands. ml.kwee@vumc.nl
authors.forename: M L
authors.initials: ML
authors.lastname: Kwee
authors.forename: J A
authors.initials: JA
authors.lastname: van de Sluijs
authors.forename: J M G
authors.initials: JM
authors.lastname: van Vugt
authors.forename: L C D
authors.initials: LC
authors.lastname: Wijnaendts
authors.forename: J J P
authors.initials: JJ
authors.lastname: Gille
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D002348:Carpal Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005360:Fibula / Q000002:abnormalities / Q000000981:diagnostic imaging; D017353:Gene Deletion; D005865:Gestational Age; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D011884:Radius / Q000002:abnormalities / Q000000981:diagnostic imaging; D000074122:Short Stature Homeobox Protein; D013639:Tarsal Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D014157:Transcription Factors / Q000235:genetics*; D014457:Ulna / Q000002:abnormalities / Q000000981:diagnostic imaging
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors