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 possibly new lethal syndrome |
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| Authors: | R A Pfeiffer H St?ss H J Voight G F Wündisch |
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| Affiliation: | Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Bayreuth, Federal Republic of Germany. |
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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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