Title: Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "Circumferential skin creases Kunze type"
Authors: Wouters, Leendert
Rodriguez Rodriguez, Celia Maria
Dapena, Elena Porta
Vander Poorten, Vincent
Devriendt, Koenraad
Van Esch, Hilde # ×
Issue Date: Jan-2011
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:54 issue:3 pages:236-240
Abstract: Congenital symmetrical circumferential skin creases are a rare feature, often described as the "Michelin Tire Baby" syndrome and in general having a good prognosis. In some patients however, the circumferential skin creases are associated with other congenital malformations. We describe 2 unrelated patients presenting with multiple circumferential skin creases, growth retardation, developmental delay, a typical facial appearance and cleft palate. In literature, 6 patients with an almost identical clinical phenotype have been described. This well recognizable syndrome should be distinguished from the "Michelin Tire Baby" syndrome and we therefore propose the term "circumferential skin creases Kunze type".
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Specific Teacher Training Programme in Social Studies and Philosophy
Head and Neck Oncology (+)
× corresponding author
# (joint) last author

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