title: A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS.
abstract: Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. We report on a male infant with characteristic skin defects of the face, trunk and extremities, polysyndactyly and unusual ocular and brain findings. He had sclerocornea of the right eye, anterior persistent hyperplastic primary vitreous of the left eye and hydrocephalus. Clinical findings support the diagnosis of Goltz syndrome. The clinical picture of Goltz syndrome is compared with that of MIDAS syndrome.
authors.affiliation: Medical Genetics, University of Athens, Choremio Research Laboratory, Athens, Greece. efrysira@cc.uoa.gr
authors.forename: Helen
authors.initials: H
authors.lastname: Fryssira
authors.forename: Miltiadis
authors.initials: M
authors.lastname: Papathanassiou
authors.forename: Joanna
authors.initials: J
authors.lastname: Barbounaki
authors.forename: Irene
authors.initials: I
authors.lastname: Orfanou
authors.forename: Evangelia
authors.initials: E
authors.lastname: Lagona
authors.forename: Peter
authors.initials: P
authors.lastname: Paikos
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D003315:Cornea / Q000002:abnormalities*; D003937:Diagnosis, Differential; D005489:Focal Dermal Hypoplasia / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D012590:Sclera / Q000002:abnormalities*; D012868:Skin Abnormalities / Q000473:pathology*; D013576:Syndactyly / Q000473:pathology*