title: Lethal course of X-linked dominant chondrodysplasia punctata in a male newborn.
abstract: We report a newborn with some manifestations of chondrodysplasia punctata. Additional abnormalities were hydrocephalus, bilateral syndactyly of the fourth and fifth fingers and toes, absence of the middle phalanx of all toes, hypoplasia of the second and third phalanges of all fingers and cryptorchidism. This observation suggests that we are possibly dealing with a rare male case of X-linked dominant chondrodysplasia punctata.
authors.affiliation: Department of Pediatric Dermatology, Free University of Brussels, Belgium.
authors.forename: L
authors.initials: L
authors.lastname: De Raeve
authors.forename: M
authors.initials: M
authors.lastname: Song
authors.forename: G
authors.initials: G
authors.lastname: De Dobbeleer
authors.forename: M
authors.initials: M
authors.lastname: Spehl
authors.forename: N
authors.initials: N
authors.lastname: Van Regemorter
mesh_terms: D000015:Abnormalities, Multiple; D002806:Chondrodysplasia Punctata / Q000235:genetics* / Q000473:pathology; D003456:Cryptorchidism; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D006849:Hydrocephalus; D007231:Infant, Newborn; D008297:Male; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D013576:Syndactyly; D014960:X Chromosome