title: The microcephaly-capillary malformation syndrome in two brothers with novel clinical features.
abstract: BACKGROUND
  Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth. Recently, mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome.
  
  
  METHODS
  We describe two brothers (ages 7 and 12 years) from consanguineous parents of Saudi ancestry. Along with the established main clinical features of this syndrome, these boys exhibited certain novel and distinctive phenotypic features (congenital hypothyroidism and autistic-like behavior with intermittent repetitive hand-flapping movements). Genetic studies revealed the presence of homozygous pathogenic STAMPB mutation.
  
  
  CONCLUSIONS
  This report presents the longest follow-up of patients with microcephaly-capillary syndrome so far reported and emphasize the syndrome's phenotype variability.
authors.affiliation: Pediatric Neurology Unit, Pediatric Department, Al Sabah Hospital, Kuwait City, Kuwait. Electronic address: mpavlov34@gmail.com.
authors.forename: Milen
authors.initials: M
authors.lastname: Pavlović
authors.affiliation: Department of Pediatrics, Medical Faculty, University of Ljubljana, Ljubljana, Slovenia.
authors.forename: David
authors.initials: D
authors.lastname: Neubauer
authors.affiliation: Pediatric Neurology Unit, Pediatric Department, Al Sabah Hospital, Kuwait City, Kuwait.
authors.forename: Asma
authors.initials: A
authors.lastname: Al Tawari
authors.affiliation: Pediatric Neurology Unit, Pediatric Department, Al Sabah Hospital, Kuwait City, Kuwait.
authors.forename: Lada Cindro
authors.initials: LC
authors.lastname: Heberle
mesh_terms: D002196:Capillaries / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D003241:Consanguinity; D056827:Endosomal Sorting Complexes Required for Transport / Q000235:genetics*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D043222:Ubiquitin Thiolesterase / Q000235:genetics*; D054079:Vascular Malformations / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D056827:Endosomal Sorting Complexes Required for Transport; C486696:STAMBP protein, human; D043222:Ubiquitin Thiolesterase
keywords: STAMBP mutation; epilepsy; global developmental delay; microcephaly-capillary malformation syndrome