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
- 1 April 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 29 (4) , 901-908
- https://doi.org/10.1002/ajmg.1320290422
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.Keywords
This publication has 2 references indexed in Scilit:
- Fibular A/hypoplasia: Review and documentation of the fibular developmental fieldAmerican Journal of Medical Genetics, 1986
- Poly-, syn- and oligodactyly, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs—A new autosomal recessive syndromeEuropean Journal of Pediatrics, 1980