title: Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.
abstract: A boy was born with multiple anomalies, including right hemifacial microsomia, eye abnormalities, syndactyly, right hand ectrodactyly, hypoplastic nails, omphalocele, bladder exstrophy, renal dilatation, and splayed symphysis pubis. The skin was also abnormal, with atrophic skin plaques and areas of telangiectasia along the lines of Blaschko. The karyotype was 47,XXY (Klinefelter syndrome). He was found to have a heterozygous mutation in the PORCN gene. He exhibited the classical features of focal dermal hypoplasia. Fewer than 15% of reported cases are male when it is thought to be due to postzygotic mutation and thus mosaic. This is the first reported boy to have heterozygous mutation for Goltz syndrome who survived due to the extra X chromosome.
authors.affiliation: Newborn Services, Auckland City Hospital, Auckland, New Zealand.
authors.forename: Said
authors.initials: S
authors.lastname: Alkindi
authors.forename: Malcolm
authors.initials: M
authors.lastname: Battin
authors.forename: Salim
authors.initials: S
authors.lastname: Aftimos
authors.forename: Diana
authors.initials: D
authors.lastname: Purvis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000217:Acyltransferases; D005489:Focal Dermal Hypoplasia / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007713:Klinefelter Syndrome / Q000235:genetics*; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human