Absence of fibula and ulna with oligodactyly,contractures, right-angle bowing of femora,abnormal facial morphology,cleft lip/palate and brain malformation in two sibs: A possible new lethal syndrome |
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Authors: | R. A. Pfeiffer,H. St ss,H. J. Voight,G. F. Wü ndisch,John M. Optiz,James F. Reynolds |
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Abstract: | Absence of fibulae, and unilateral absence of ulna, associated with lateral oligodactyly, and rectangular bowing of the femora are the prominent features of a lethal syndrome studied in two children of related parents. Other malformations are cleft lip and palate and posterior midline abnormalities of the brain. One similar though not identical MCA-syndrome was reported. The literature is reviewed with respect to ulno-fibular malformations. |
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Keywords: | Lethal MCA-syndrome malformations of the ulna and fibula rectangular bowing of the femora |
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