Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".
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".
Department of Paediatrics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.
Leen
L
Wouters
Celia Maria
CM
Rodriguez Rodriguez
Elena Porta
EP
Dapena
Vincent Vander
VV
Poorten
Koen
K
Devriendt
Hilde
H
Van Esch
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D002972:Cleft Palate / Q000473:pathology*; D003937:Diagnosis, Differential; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D008297:Male; D012868:Skin Abnormalities / Q000145:classification / Q000473:pathology*; D013577:Syndrome