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pro vyhledávání: '"Lieve Claus"'
Publikováno v:
Pediatric Pathology & Molecular Medicine. 22:23-35
We report on a 4-year-old boy with a multiple congenital anomaly syndrome comprising symmetric carpometacarpal and tarsometatarsal synostoses and moderate acromesomelia. Because both the anatomy and function in elbows, knees, and ankles were adversel
Autor:
Alain Verloes, Bertrand Isidor, Antoine Hamel, Lieve Claus, Geert Mortier, Albert David, Frank Plasschaert, Jules G. Leroy, Jacques-Marie Mercier
Publikováno v:
American journal of medical genetics. Part A. (10)
Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and ureteral anomalies. Since the original re