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.
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.
authors.affiliation: Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Bayreuth, Federal Republic of Germany.
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: H
authors.initials: H
authors.lastname: Stöss
authors.forename: H J
authors.initials: HJ
authors.lastname: Voight
authors.forename: G F
authors.initials: GF
authors.lastname: Wündisch
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities; D005360:Fibula / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D005804:Genes, Lethal; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014457:Ulna / Q000002:abnormalities