Access the full text.
Sign up today, get DeepDyve free for 14 days.
M. Fujimoto, P. Kantaputra, S. Ikegawa, Y. Fukushima, S. Sonta, M. Matsuo, T. Ishida, Tadashi Matsumoto, S. Kondo, Hiro-aki Tomita, H. Deng, M. D'urso, M. Rinaldi, V. Ventruto, T. Takagi, Yusuke Nakamura, N. Niikawa (1998)
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32Journal of Human Genetics, 43
H. Sugawara, M. Egashira, N. Harada, T. Jakobs, K. Yoshiura, T. Kishino, T. Ohta, N. Niikawa, N. Matsumoto (2002)
Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasiaJournal of Medical Genetics, 39
T. Nagai (2001)
[Fetal trimethadione syndrome].Ryoikibetsu shokogun shirizu, 33
C. Peichel, C. Abbott, T. Vogt (1996)
Genetic and physical mapping of the mouse Ulnaless locus.Genetics, 144 4
F. Spitz, Thomas Montavon, C. Monso‐Hinard, M. Morris, M. Ventruto, S. Antonarakis, V. Ventruto, D. Duboule (2002)
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.Genomics, 79 4
C. Hall (2002)
International nosology and classification of constitutional disorders of bone (2001).American journal of medical genetics, 113 1
K. Kosaki, R. Kosaki, Taichi Suzuki, H. Yoshihashi, Takao Takahashi, K. Sasaki, M. Tomita, W. McGinnis, N. Matsuo (2001)
Complete mutation analysis panel of the 39 human HOX genes.Teratology, 65 2
V. Ventruto, R. Pisciotta, S. Renda, B. Festa, M. Rinaldi, M. Stabile, M. Cavaliere, M. Esposito, J. Opitz (1983)
Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13).American journal of medical genetics, 16 4
P. Kantaputra, Robert Gorlin, Leonard Langer (1992)
Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder.American journal of medical genetics, 44 6
E. Zackai, W. Mellman, B. Neiderer, J. Hanson (1975)
The fetal trimethadione syndrome.The Journal of pediatrics, 87 2
Allan Davis, Dave Witte, H. Hsieh-Li, S. Potter, Mario Capecchi (1995)
Absence of radius and ulna in mice lacking hoxa-11 andhoxd-11Nature, 375
G. Feldman, D. Weaver, E. Lovrien (1977)
The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome.American journal of diseases of children, 131 12
We present the clinical and radiographic findings in a mother and son with a dominantly inherited mesomelic skeletal dysplasia almost identical to that described in a large Thai family by Kantaputra et al., in which ankle, carpal and tarsal synostoses were noted. The proband in the family is a 48‐year‐old woman with mesomelic limb shortening, most pronounced in the upper limbs. Her parents were of normal stature and build. Her 15‐year‐old son has similar mesomelic limb shortening, and in addition talipes equinovarus. Radiological examination showed severe shortening of the radius and ulna with bowing of the radius and dislocation of the radial head. Multiple carpal and tarsal synostoses were present and in addition, the talus and calcaneum were fused. In the original Thai family, linkage to chromosome 2q24‐q32, which contains the HOXD cluster has been reported, and it is postulated that the phenotype may result from a disturbance of regulation of the HOXD cluster. Although linkage analysis was not possible in our family, molecular analysis was undertaken and HOXD11 was sequenced, however, no mutations were detected. This is only the second reported family affected with Kantaputra mesomelic dysplasia (MIM 156232), a distinct mesomelic skeletal dysplasia. © 2004 Wiley‐Liss, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 2004
Keywords: ; ;
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.