Title: Cenani-Lenz syndrome in father and daughter
Authors: De Smet, Luc ×
Debeer, Philippe
Fryns, Jean-Pierre #
Issue Date: Jan-1996
Series Title: Genetic Counseling vol:7 issue:2 pages:153-7
Abstract: We present a father and daughter with typical clinical and radiological features of Cenani-Lenz syndrome. Cenani-Lenz syndrome has been delineated as a type of complete syndactyly resembling the spoon hand seen in Apert syndrome, with as important additional feature, the fusion of metacarpals and disorganization of the phalanges. Based on the observation of the syndrome in at least two affected siblings born to normal parents and the consanguinity in one family autosomal recessive inheritance was proposed. The findings in the present family could indicate that Cenani-Lenz syndrome may be genetically heterogeneous. Another possible explanation could be that the occurrence in affected siblings born to normal parents could be explained by gonadal mosaicism for an autosomal dominant gene.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Orthopaedics Section (-)
Clinical Genetics Section (-)
Research Group for Musculoskeletal Rehabilitation
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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