Abstract
We report our detailed investigation of a 7-1/2-year-old girl with short stature, aged appearance, decreased subcutaneous fat and muscle mass, dry coarse hair, foot deformities, macroepiphyses with prominent but lax joints, and osteoporosis with recurrent fractures who is the off-spring of first cousins. This constellation of abnormalities differs from previously reported cases where macroepiphyses were a prominent finding. Our patient appears, therefore, to have a new, autosomal recessively inherited, syndrome.
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References
Amir N, Gross-Kieselstein E, Hirsch HJ, Lax E, Silverberg-Shalev R (1984) Weaver-Smith syndrome. A case study with long-term follow-up. Am J Dis Child 138:1113
Giedion A, Brandner M, Lecannellier J, Muhar U, Prader A, Sulzer J, Zweymuller E (1982) Oto-spondylo-megaepiphyseal dysplasia (OSMED). Helv Paediatr Acta 37:361
Gorlin RJ, Alper R, Langer LO (1973) Megepiphyseal dwarfism. J Pediatr 83:633
Haller JO, Berdon WE, Robinow M, Slovis TL, Baker DH, Johnson GF (1975) The Weissenbach-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. AJR 125:936
Insley J, Astley R (1974) A bone dysplasia with deafness. Br J Radiol 47:244
Karrar ZA, Elidrissy ATH, AlArabi K, Adam KA (1983) The wrinkly skin syndrome: A report of two siblings from Saudia Arabia. Clin Genet 23:308
Kozlowski K (1972) Unclassified type of spondylo-epiphyseal dysplasia with macroepiphyses (report of a case). Australas Radiol 16:73
Lachman RS, Rimoin DL, Hollister DW, Dorst JP, Siggers DC, McAlister WH, Kaufman RL, Langer LO (1975) The Kniest syndrome. AJR 123:805
Perri G (1981) The radiologic features of a new bone dysplasia. Pediatr Radiol 11:109
Whyte MP, Bergfeld M, Murphy WA, Teitelbaum SL, Avioli LV (1982) Postmenopausal osteoporosis. A heterogenous disorder as assessed by histomorphometric analysis of undecalcified iliac crest bone from untreated patients. Am J Med 72:193
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McAlister, W.H., Coe, J.D. & Whyte, M.P. Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: A presumed autosomal recessive condition. Skeletal Radiol 15, 47–51 (1986). https://doi.org/10.1007/BF00355073
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DOI: https://doi.org/10.1007/BF00355073