Authors: E. Seemanová Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, Praha vedoucí MUDr. M. Havlovicová Published in: Čes-slov Pediat 2004; (1): 14-17. Category:
Fuhrmann syndrome is an autosomal recessive skeletal disorder with major manifestations on terminal partof limbs. Cardinal features are hypoplasia/aplasia of the fibula, oligodactyly of ulnar and fibular side or poly - andsyndactyly and aplasia of some terminal phalanges of toes. Urogenital anomalies were also seen in some individualswith Fuhrmann syndrome. Other organs as well as growth and intelligence are not affected. Author describes onegirl with classical combination of features in Fuhrmann syndrome and her development from the birth at age of17 years. The girl is only affected child in her family, but product of consanguineous marriage with coefficient ofinbreeding 1/16.
Key words: Fuhrmann syndrome, fibula aplasia/hypoplasia, oligodactyly, urogenital anomalies, autosomalrecessive inheritance
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