title: Patient with disorganization syndrome: surgical procedures, pathology, and potential causes.
abstract: BACKGROUND
  The human disorganization syndrome (HDS) is an extremely rare malformation syndrome that presents with a severe pattern of defects affecting different structures.
  
  
  METHODS
  We describe a newborn girl presenting with HDS. Her clinical features included a large appendage arising from the right buttock as the only alteration, with size and shape of a lower member-like structure, and a pedicle of the extra limb structure. The surgical observations, the pathological results, evolution up to 6 months of age, and their potential causes are described, as well as a review of the literature.
  
  
  RESULTS
  The MRI procedure also detected a multicystic mass located at the presacral region of the pelvis and perineum, without any dysraphism or other medullary anomalies. The X-ray showed that the member-like structure had an iliac wing, femur, tibia, fibula, and aberrant metatarsals. The review of the literature shows disparate defects of the published cases with HDS, which include some features pathogenically not related with this syndrome.
  
  
  CONCLUSIONS
  We highlight the need to maintain restricted the clinical diagnosis for HDS to those concordant with a great disorganization of morphogenetic inductions affecting the three germ layers, which occur during the first four weeks of development. This is crucial to: (a) perform a correct diagnosis, which is essential to establish the prognosis and surgery procedures, (b) identify which is/are the cause/s, and (c) the adequate genetic counseling.
authors.affiliation: Servicio de Cirugía Pediátrica, Hospital Universitario Virgen de la Arrixaca, Región de Murcia, Spain.
authors.forename: Oscar Girón
authors.initials: OG
authors.lastname: Vallejo
authors.forename: María del Carmen
authors.initials: Mdel C
authors.lastname: Benítez Sánchez
authors.forename: Cesar Salcedo
authors.initials: CS
authors.lastname: Cánovas
authors.forename: Joanna Díez
authors.initials: JD
authors.lastname: Ontiveros
authors.forename: José Ignacio
authors.initials: JI
authors.lastname: Ruiz Jiménez
authors.forename: Eva
authors.initials: E
authors.lastname: Bermejo-Sánchez
authors.forename: María Luisa
authors.initials: ML
authors.lastname: Martínez-Frías
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery*; D011859:Radiography; D013577:Syndrome
keywords: GATA4; disorganization syndrome; surgery