title: Early two-stage repair of clefts in holoprosencephaly.
abstract: Holoprosencephaly (HPE) presents with a spectrum of severity, but in its totality is the most common malformation of the embryonic forebrain occurring 1 in 10,000 to 1 in 20,000 live births. Due to the poor prognosis, treatment of mid-face clefts in HPE patients have classically been addressed in a delayed fashion after 1-year of age. Improvements in the ability to manage medical complications associated with HPE along with an increased understanding and lower mortality rates in less severe forms have challenged these previous practiced routines. Accompanied by advances in understanding of HPE and identification of genes responsible for sporadic forms, we are able to better guide timing of surgical intervention. We present a patient with lobar HPE and a type IV facial deformity treated with early repair of the median facial cleft. We believe this treatment strategy was safe, given her relatively good prognosis. We propose that patients with HPE displaying less severe neural non-cleavage may be good candidates for earlier two-stage intervention.
  
  
  CONCLUSIONS
  The historically poor prognosis of patients with holoprosencephaly (HPE) has led to midline facial clefts have being addressed in a delayed fashion after 1-year of age. Improvements in the ability to manage medical complications associated with HPE and lower mortality rates in less severe forms have challenged these previous practiced routines. Additionally, the identification of genes responsible for sporadic forms of HPE can better guide timing of surgical intervention and improve developmental outcomes. We present a patient with lobar HPE and a type IV facial deformity treated with an early two-stage repair of the median facial cleft. We propose patients with HPE displaying less severe neural non-cleavage may be good candidates for earlier intervention.
authors.affiliation: Division of Plastic Surgery, University of Arizona, 1501 N. Campbell Ave, Room 4402, Tucson, AZ, 85724, USA. Electronic address: tmrankin.md@gmail.com.
authors.forename: Timothy M
authors.initials: TM
authors.lastname: Rankin
authors.affiliation: Division of Plastic Surgery, University of California, San Diego 200 West Arbor Drive, San Diego, CA, 92103-8890, USA. Electronic address: bmailey@ucsd.edu.
authors.forename: Brian
authors.initials: B
authors.lastname: Mailey
authors.affiliation: Division of Plastic Surgery, University of California, San Diego 200 West Arbor Drive, San Diego, CA, 92103-8890, USA. Electronic address: ahmadsaad78@gmail.com.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Saad
authors.affiliation: Division of Plastic Surgery, University of Arizona, 1501 N. Campbell Ave, Room 4402, Tucson, AZ, 85724, USA. Electronic address: biswasmd@gmail.com.
authors.forename: Atanu
authors.initials: A
authors.lastname: Biswas
authors.affiliation: Division of Plastic Surgery, University of Arizona, 1501 N. Campbell Ave, Room 4402, Tucson, AZ, 85724, USA. Electronic address: churst@surgery.arizona.edu.
authors.forename: Craig
authors.initials: C
authors.lastname: Hurst
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000150:complications; D002971:Cleft Lip / Q000601:surgery*; D002972:Cleft Palate / Q000601:surgery*; D004388:Dura Mater / Q000002:abnormalities; D005260:Female; D016142:Holoprosencephaly / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D009296:Nasal Cavity / Q000601:surgery; D009666:Nose / Q000002:abnormalities; D021362:Palate, Hard / Q000601:surgery; D010160:Palate, Soft / Q000601:surgery; D019651:Plastic Surgery Procedures / Q000379:methods*; D012225:Rhinoplasty / Q000379:methods; D014057:Tomography, X-Ray Computed / Q000379:methods
keywords: Cleft lip; Cleft palate; Holoprosencephaly