Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical manifestations. Its incidence in the general population is low. The oral manifestations of Ellis-van Creveld are found in soft tissues and teeth, but the dental literature on the subject is scarce. In the last 20 years, 5 cases of Ellis-van Creveld syndrome have been follo...

Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC...

BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a f...

The current classification of the epilepsies and epileptic syndromes is practical and useful in a majority of cases. However, the choice of its subdivisions was mainly derived from adult data, and its applicability is frequently problematic in early childhood. This article reviews some issues related to the classification of epilepsies in childhood and summarizes recent proposals that might imp...

JUNES, E. (1925)-Xeroderma pigmentosum avec lesions oculaires. Le X.p. en Tun6sie. Arch. d'Obhtal., Vol. XLII, p. 193. MIESCHER, G. (1933)-Melanom. Sorderdruck aus Handbuch der Haut-und Geschlechtskrankheiten. Herausgegeben von J. Jadassohn. Springer, Berlin. Vol. XII, Part 3. SCHIECK, F. (1931)-Die Erkrankungen der Conjunctiva, Cornea und Sclera, Kurzes Handbuch der Ojhthal. Springer, Berlin. ...

WAARDENBURG'S syndrome, or more fully the van der Hoeve-Halbertsma-Waardenburg-Klein syndrome, is a combination of ocular and associated anomalies which are always genetically determined and usually show a dominant transmission. The individual features of the syndrome are not of themselves uncommon and the most characteristic of these, outward displacement of the inner canthi, has been describe...

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