title: Global developmental delay, osteopenia and ectodermal defect: a new syndrome.
abstract: Global developmental delay is a serious social problem. It is often unrecognized and the phenotypes are inadequately studied. To investigate the phenotypes of children with aspecific central nervous system (CNS) impairment (poor speech, maladaptive behavioral symptoms such as temper tantrums, aggressiveness, poor concentration and attention, impulsiveness, and mental retardation).
  
  
  METHODS
  Tertiary care hospital.
  
  
  METHODS
  Three children (two male siblings, and one unrelated girl).
  
  
  METHODS
  We used the results from clinical neurological evaluations; imaging and electrodiagnostic studies; metabolic and genetic tests; skin biopsies and bone mineral densitometry. All three children suffered from (A) global developmental delay, (B) osteopenia, and (C) identical skin defects. The skin ultrastructural abnormalities were abnormal keratin differentiation, consisting of hyperkeratosis and granular layer thickening; sweat gland abnormalities, consisting of focal, cytoplasmic clear changes in eccrine secretory cells; and melanocyte abnormalities, with both morphological changes (reduced number and size without evident dendritic processes), and functional changes (defects in the migration of melanosomes in the keratinocytes). These patients present a previously unrecognized syndrome. We retain useful to report this new association, to be recognized, in the next future, as a specific key-sign of a well-defined genetic defect.
authors.affiliation: Department of Paediatrics, Obstetrics and Reproductive Medicine, Section of Paediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it
authors.forename: Raffaella
authors.initials: R
authors.lastname: Zannolli
authors.forename: Sabrina
authors.initials: S
authors.lastname: Buoni
authors.forename: Francesca
authors.initials: F
authors.lastname: Macucci
authors.forename: Maria M de
authors.initials: MM
authors.lastname: Santi
authors.forename: Flavia
authors.initials: F
authors.lastname: Miracco
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
authors.forename: Massimo
authors.initials: M
authors.lastname: Mogni
authors.forename: Paola
authors.initials: P
authors.lastname: Piomboni
authors.forename: Maria R
authors.initials: MR
authors.lastname: Massafra
authors.forename: Paolo
authors.initials: P
authors.lastname: Galluzzi
authors.forename: Walter
authors.initials: W
authors.lastname: Livi
authors.forename: Aldo
authors.initials: A
authors.lastname: Cuccia
authors.forename: Maria A
authors.initials: MA
authors.lastname: Margollicci
authors.forename: Lucia
authors.initials: L
authors.lastname: Pucci
authors.forename: Palmino
authors.initials: P
authors.lastname: Sacco
authors.forename: Massimo
authors.initials: M
authors.lastname: Molinelli
authors.forename: Alberto B
authors.initials: AB
authors.lastname: Burlina
authors.forename: James A
authors.initials: JA
authors.lastname: Swift
authors.forename: Michele
authors.initials: M
authors.lastname: Fimiani
authors.forename: Michele
authors.initials: M
authors.lastname: Zappella
authors.forename: Clelia
authors.initials: C
authors.lastname: Miracco
mesh_terms: D001706:Biopsy; D001851:Bone Diseases, Metabolic / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics*; D004475:Ectoderm / Q000473:pathology*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007633:Keratins / Q000378:metabolism; D008297:Male; D008544:Melanocytes / Q000473:pathology; D035781:Siblings; D012867:Skin / Q000473:pathology*; D013545:Sweat Glands / Q000002:abnormalities; D013577:Syndrome
chemical_list: D007633:Keratins