A case of Mesomelic dysplasia Kantaputra type - New findings and a new diagnostic approach

Journal of Pediatric Orthopaedics Part B

Volumn 17, Issue 5, 2008, Pages 271-276

  Siwicka, Karolina Anna ^a,b   Kitoh, Hiroshi ^b   Nishiyama, Masaki ^b   Ishiguro, Naoki ^b  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Ankle synostosis; Bifid calcaneus; Magnetic resonance imaging; Mesomelic dysplasia; Mesomelic dysplasia Kantaputra type

Indexed keywords

ANKLE; ARTICLE; BONE DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DYSCHONDROSTEOSIS; FOOT MALFORMATION; HUMAN; JOINT LIMITATION; KARYOTYPE; LIMB MALFORMATION; MALE; MESOMELIC DYSPLASIA KANTAPUTRA TYPE; NUCLEAR MAGNETIC RESONANCE IMAGING; ORTHOPEDIC SURGERY; PRESCHOOL CHILD; PRIORITY JOURNAL; RANGE OF MOTION; SHORT STATURE; SYNOSTOSIS; X RAY FILM; BONE DYSPLASIA; CARPAL BONE; CHROMOSOME 2; CONGENITAL MALFORMATION; FOLLOW UP; GENETIC PREDISPOSITION; GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PEDIGREE; SYNDROME; TARSAL BONE;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CARPAL BONES; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; DNA MUTATIONAL ANALYSIS; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; PEDIGREE; SYNDROME; TARSAL BONES;

EID: 67049108094     PISSN: 1060152X     EISSN: 14735865     Source Type: Journal    
DOI: 10.1097/BPB.0b013e32830cc3c8     Document Type: Article

References (16)

1. 1 Kantaputra PN, Gorlin RJ, Langer LO. Dominant mesomelic dysplasia, ankle, carpal and tarsal synostosis type: a new autosomal dominant bone disorder. Am J Med Genet 1992; 16:589-594.
2. 2 Shears DJ, Offiah A, Rutland P, Sirimanna T, Bitner-Glindzicz M, Hall C. Kantaputra mesomelic dysplasia: a second reported family. Am J Med Genet 2004; 128A:6-11.
3. 3 Kwee ML, Van de Sluijs JA, van Vugt JM, Gille JJ. Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. Am J Med Genet 2004; 128A:404-409.
4. 4 Kantaputra PN. Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al. Am J Med Genet 2004; 128A:1-5.
5. 5 Fujimoto M, Kantaputra PN, Ikegawa S, Fukushima Y, Sonta S, Matsuo M, et al. The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. J Hum Genet 1998; 43:32-36.
6. 6 Superti-Furga A, Unger S. Nosology and classification of genetic skelet al. disorders: 2006 revision. Am J Med Genet A 2007; 143A:1-18.
7. 7 Mohan V, Gupta RP, Helmi K, Marklund T. Leri-Weill syndrome (dyschondrosteosis): a family study. J Hand Surg (Br) 1988; 13: 16-18.
8. 8 Kunze J, Klemm T. Mesomelic dysplasia, type Langer-A homozygous state for dyschondrosteosis. Eur J Pediatr 1980; 134:269-272.
9. 9 Patton MA, Afzal AR. Robinow syndrome. J Med Genet 2002; 39: 305-310.
10. 10 Savarirayan R, Cormier-Daire V, Curry CJ, Nashelsky MB, Rappaport V, Rimoin DL, Lachman RS. New mesomelic dysplasia with absent fibulae and triangular tibiae. Am J Med Genet 2000; 94:59-63.
11. 11 Reardon W, Hall CM, Slaney S, Huson SM, Connell J, al-Hilaly N, et al. Mesomelic limb shortness: a previously unreported autosomal recessive type. Am J Med Genet 1993; 47:788-792.
12. 12 Pearlman HS, Edkin RE, Warren RF. Familial tarsal and carpal synostosis with radial-head subluxation (Nievergelt's Syndrome). J Bone Joint Surg Am 1964; 46:585-592.
13. 13 Leroy JG, Claus L, Lee B, Mortier GR. Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome. Pediatr Pathol Mol Med 2003; 22:23-35.
14. 14 Newman JS, Newberg AH. Congenital tarsal coalition: multimodality evaluation with emphasis on CT and MR imaging. Radiographics 2000;20:321-332.
15. 15 Tachdjian MO. Introduction. In: Tachdjian MO, editor. The child's foot. Philadelphia: W. B. Saunders; 1985: 1-131.
16. 16 Turhan AU, Dinç H, Aydin H, Aynaci O. An accessory ossification centre in the calcaneus with talonavicular and second metatarsocuneiform coalitions. Eur Radiol 1999; 9:481-482.