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  • Title: 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.
    Author: Pfeiffer RA, Stöss H, Voight HJ, Wündisch GF.
    Journal: Am J Med Genet; 1988 Apr; 29(4):901-8. PubMed ID: 3400735.
    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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