title: Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.
abstract: Chondrodysplasia punctata (CDP) is a heterogeneous group of rare bone dysplasias characterized by punctate calcification of cartilage. The punctate calcifications are non-specific and have been seen in a wide variety of disorders including the Zellweger syndrome, warfarin, dilantin, alcohol and rubella embryopathies, vitamin-K-epoxide-reductase deficiency, chromosome trisomies 18 and 21, the Smith-Lemli-Opitz syndrome, prenatal infectious chondritis, hypothyroidism, and other rare disorders. We report on a boy with short stature, developmental delay, nasal hypoplasia, telebrachydactyly, hypoplastic genitalia, CDP, ichthyosis, hypoplastic genitalia, and a 46-X,+der(X),t(X;Y)(p22.31;q11.21), Y karyotype. Genomic DNA probe analysis was interpreted as showing that the translocation breakpoint was within the X-linked Kallmann syndrome gene. We review a current classification of these disorders that includes 3 well-defined single gene disorders. These include an autosomal recessive rhizomelic type with early lethality, an X-linked dominant type with presumed male lethality, and an X-linked recessive type that has only been described as part of a contiguous gene deletion syndrome.
authors.affiliation: National Naval Medical Center, Uniformed Services University of the Health Sciences, Bethesda, Maryland.
authors.forename: E A
authors.initials: EA
authors.lastname: Wulfsberg
authors.forename: J
authors.initials: J
authors.lastname: Curtis
authors.forename: C H
authors.initials: CH
authors.lastname: Jayne
mesh_terms: D002806:Chondrodysplasia Punctata / Q000145:classification* / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics; D007223:Infant; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*; D014998:Y Chromosome