title: X-linked dominant chondrodysplasia punctata (Happle syndrome) with uncommon symmetrical shortening of the tubular bones.
abstract: We describe the case of a 13-year-old girl suffering from chondrodysplasia punctata, associated with ichthyosis arranged along Blaschko's lines, follicular atrophoderma, cicatricial alopecia and coarse, lusterless hair. The patient also showed a congenital cataract of the right eye, dysplastic facial appearance and symmetrical shortening of the tubular bones. The pathogenetic concept of functional X-chromosome mosaicism is reviewed as well as the recent results obtained by molecular research that have failed, so far, to solve the problem of regional assignment of the underlying X-linked gene.
authors.affiliation: Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Gobello
authors.forename: C
authors.initials: C
authors.lastname: Mazzanti
authors.forename: P
authors.initials: P
authors.lastname: Fileccia
authors.forename: B
authors.initials: B
authors.lastname: Didona
authors.forename: M
authors.initials: M
authors.lastname: Papi
authors.forename: F
authors.initials: F
authors.lastname: Atzori
authors.forename: R
authors.initials: R
authors.lastname: Cavalieri
mesh_terms: D000293:Adolescent; D000505:Alopecia / Q000235:genetics; D001284:Atrophy; D001842:Bone and Bones / Q000002:abnormalities*; D002386:Cataract / Q000151:congenital; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D002921:Cicatrix; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage / Q000235:genetics; D006201:Hair Diseases / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D007642:Keratosis / Q000235:genetics; D009030:Mosaicism / Q000235:genetics; D012867:Skin / Q000473:pathology; D014960:X Chromosome / Q000235:genetics