Sindrome di Langer o Nanismo Mesomelico di Langer OMIM 249700

 Sindrome di Langer o Nanismo Mesomelico di Langer    OMIM 249700

La displasia mesomelica di Langer o nanismo mesomelico di Langer è caratterizzata da accorciamento mesomelico degli arti inferiori e superiori, con un interessamento prevalente di fibula e ulna; radio e tibia appaiono ricurvi e ispessiti. Si associano incurvamento della mano in senso ulnare e micrognatia. 

E' una patologia autosomica recessiva. 
 
 Bibliografia

Bertorelli, R., Capone, L., Ambrosetti, F., Garavelli, L., Varriale, L., Mazza, V., Stanghellini, I., Percesepe, A., Forabosco, A. The homozygous deletion of the 3-prime enhancer of the SHOX gene causes Langer mesomelic dysplasia. (Letter) Clin. Genet. 72: 490-491, 2007. 
Evans, M. I., Zador, I. E., Qureshi, F., Budev, H., Quigg, M. H., Nadler, H. L. Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism. Am. J. Med. Genet. 31: 915-920, 1988. 
Fryns, J. P. The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient: evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (Letter) Clin. Genet. 48: 111-112, 1995. 
Fryns, J. P., Van den Berghe, H. Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis. Hum. Genet. 46: 21-27, 1979. 
Goldblatt, J., Wallis, C., Viljoen, D., Beighton, P. Heterozygous manifestations of Langer mesomelic dysplasia. Clin. Genet. 31: 19-24, 1987.
Jones, M. C., Pickney, L. E. Mesomelic dysplasia of Langer: relationship to dyschondrosteosis. David W. Smith Workshop on Dysmorphology (pub.) 1983.
Kunze, J., Klemm, T. Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis. Europ. J. Pediat. 134: 269-272, 1980. 
Langer, L. O., Jr. Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. Radiology 89: 654-660, 1967. 
Robertson, S. P., Shears, D. J., Oei, P., Winter, R. M., Scambler, P. J., Aftimos, S., Savarirayan, R. Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. J. Med. Genet. 37: 959-964, 2000. 
Thomas, N. S., Maloney, V., Bass, P., Mulik, V., Wellesley, D., Castle, B. SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. Am. J. Med. Genet. 128A: 179-184, 2004.