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IMPAD1 mutations in two Catel-Manzke like patients.
Nizon M, Alanay Y, Tuysuz B, Kiper PO, Geneviève D, Sillence D, Huber C, Munnich A, Cormier-Daire V. Nizon M, et al. Am J Med Genet A. 2012 Sep;158A(9):2183-7. doi: 10.1002/ajmg.a.35504. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887726
Radiographs of hands and feet revealed numerous accessory bones with abnormally shaped phalanges and carpal synostosis. Based on this report, we concluded that IMPAD1 should be screened for patients with Catel-Manzke and additional features....
Radiographs of hands and feet revealed numerous accessory bones with abnormally shaped phalanges and carpal synostosis. Based …
Spondylocarpotarsal synostosis with epiphyseal dysplasia.
Honeywell C, Langer L, Allanson J. Honeywell C, et al. Am J Med Genet. 2002 May 15;109(4):318-22. doi: 10.1002/ajmg.10383. Am J Med Genet. 2002. PMID: 11992487
We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent with the diagnosis of spondylocarpotarsal synostosis syndrome. ...
We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective de …
A familial syndrome of dwarfism, bilateral club feet, premature aging and progressive panhypogammaglobulinemia.
Lenaerts J, Fryns JP, Westhovens R, Dequeker J. Lenaerts J, et al. J Rheumatol. 1994 May;21(5):961-3. J Rheumatol. 1994. PMID: 8064743
We describe a 47-year-old woman with an unusual combination of clinical signs and symptoms: short stature, oldish appearance with distinct craniofacial stigmata, talipes equinovari with adduction position of the forefeet, subluxations of the interphalangeal joints of hands and to …
We describe a 47-year-old woman with an unusual combination of clinical signs and symptoms: short stature, oldish appearance with distinct c …