title: A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach.
abstract: Mesomelic dysplasia is a heterogeneous group of rare bone diseases characterized by disproportionate shortness of middle segments of limbs and short stature. This study reports a male patient with an early diagnosed mesomelic dysplasia Kantaputra type (MIM*156232), characterized by symmetric, bilateral forearm and lower leg shortening with feet malformations and ankle-tarsal synostoses. As a result of several diagnostic biases in defining the mesomelic syndromes, we attempted to categorize symptoms and to clarify hitherto difficult discrimination between mesomeliae. Given that specific ankle joint alignment distortions seem to be pathognomonic for Kantaputra type (especially a fibulo-calcanear and, to a lesser extent, a tibio-talar synostosis), but not detectable with plane radiography, we encouraged use of MRI evaluation as an indispensable modality for proper diagnosis and further preoperative planning.
authors.affiliation: Department of Hand Surgery, Medical University of Gdansk, Gdansk, Poland. karolinasiwicka@amg.gda.pl
authors.forename: Karolina Anna
authors.initials: KA
authors.lastname: Siwicka
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kitoh
authors.forename: Masaki
authors.initials: M
authors.lastname: Nishiyama
authors.forename: Naoki
authors.initials: N
authors.lastname: Ishiguro
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics; D002348:Carpal Bones / Q000002:abnormalities; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2; D004252:DNA Mutational Analysis; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D013639:Tarsal Bones / Q000002:abnormalities