title: Clinical characteristics and outcomes of Möbius syndrome in a children's hospital.
abstract: BACKGROUND
  Möbius syndrome is a congenital disorder with facial and abducens palsy. Although a few case series studies have examined comorbid conditions in Möbius syndrome, follow-up and outcome data are sparse.
  
  
  OBJECTIVE
  To examine the clinical characteristics and outcomes of Möbius syndrome.
  
  
  METHODS
  Clinical data were reviewed for 10 patients. Neonatal history, neurological examination, comorbid anomalies, medical home care, outcomes, and neuroimaging were summarized.
  
  
  RESULTS
  The patients' mean age was 7.3 ± 6.2 years. On neurological examination, absent blink reflex, jaw ankylosis, absent gag reflex, and tongue atrophy were frequently observed. Poland anomaly and clubfoot were present in three and six patients, respectively. Specific therapies required for patients included medical home care (six patients), suction apparatus (six), tube feeding (five), gastrostomy (two), tracheostomy (three), oxygen therapy (three), and home ventilator (two). Punctate calcification in the brainstem was observed in four patients. Pontine and medulla hypoplasia were detected on the basis of anteroposterior diameter in four and seven patients, respectively. Two patients had congenital hydrocephalus with aqueductal stenosis. Global developmental delay occurred in five patients. Three patients died.
  
  
  CONCLUSIONS
  The rate of both the use of home medical devices and death was high in our patients. Möbius syndrome is extremely diverse, not only in clinical manifestation, but also outcome. Early multidisciplinary intervention is important to ensure an optimal outcome. Aqueductal stenosis is an occasional comorbid anomaly resulting from midbrain abnormality.
authors.affiliation: Division of General Medicine, Kanagawa Children's Medical Center, Kanagawa, Japan; Division of Neonatology, Kanagawa Children's Medical Center, Kanagawa, Japan. Electronic address: kmatsui3310@gmail.com.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Matsui
authors.affiliation: Division of General Medicine, Kanagawa Children's Medical Center, Kanagawa, Japan.
authors.forename: Ai
authors.initials: A
authors.lastname: Kataoka
authors.affiliation: Division of General Medicine, Kanagawa Children's Medical Center, Kanagawa, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Yamamoto
authors.affiliation: Division of General Medicine, Kanagawa Children's Medical Center, Kanagawa, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Tanoue
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Kanagawa, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.affiliation: Division of Neonatology, Kanagawa Children's Medical Center, Kanagawa, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Shibasaki
authors.affiliation: Division of Neonatology, Kanagawa Children's Medical Center, Kanagawa, Japan.
authors.forename: Makiko
authors.initials: M
authors.lastname: Ohyama
authors.affiliation: Division of Radiology, Kanagawa Children's Medical Center, Kanagawa, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D006776:Hospitals, Pediatric; D006801:Humans; D007223:Infant; D008297:Male; D020331:Mobius Syndrome / Q000473:pathology* / Q000503:physiopathology* / Q000628:therapy*; D055815:Young Adult
keywords: Möbius syndrome; Poland anomaly; aqueductal stenosis; brainstem hypoplasia; global developmental delay; home medical care