Phenotypic and microscopic description of a new case of Ermine phenotype.

We describe a new case of Ermine phenotype. The patient had the striking pattern of skin and hair involvement that characterize the condition, global developmental delay, growth retardation, microcephaly, and bilateral hearing loss. Results of extensive workup for several other neurologic, metabolic, mitochondrial, genetic and chromosomal conditions were normal.

International collaborative study on ghost cell odontogenic tumours: calcifying cystic odontogenic tumour, dentinogenic ghost cell tumour and ghost cell odontogenic carcinoma.

Background: Calcifying odontogenic cyst was described first by Gorlin et al. in 1962; since then several hundreds of cases had been reported. In 1981, Praetorius et al.

Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.

SPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. The name was derived from "spondylar and nasal alterations with striated metaphyses" [Fanconi et al. 1983; Helv Paediat Acta 38: 267-280].