[The Ellis-van Creveld syndrome].
A case of Ellis-Van Creveld syndrome is presented. The diagnosis was established after birth and was based on three major symptoms: unproportionally small stature, hexadactylism and ectodermal dysplasia. The heart finding was normal and the other laboratory tests were negative. Other symptoms were less important for this syndrome. It is a chondroectodermal dysplasia of autosomal recessive type. Reports from the literature are discussed as well, especially symptoms that are rarely found in such patients. This report is intended to point out the effective role of ultrasonography in establishing the early diagnosis of this syndrome in prenatal period.
Jelić
N
N
Vuković-Mihuljec
V
V
Jelić
A
A
D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn
Ellis-van Creveldov sindrom.