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Joubert syndrome (facial phenotype)

Note the frontal bossing, high-arched eyebrows, low nasal bridge, epicanthic folds, anteverted nostrils, open mouth, and tented upper lip, respectively. (A) 7-month-old patient, (B) 18-month-old infant, (C) 4-year-old girl (same patient as B). (Contributed by Dr. Eugen Boltshauser.)

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Associated Disorders

  • Cerebellar hypoplasias
  • Congenital ocular motor apraxia
  • Hepatic fibrosis
  • Jeune asphyxiating thoracic dystropy
  • Medullary cystic kidney disease
  • Mental retardation
  • Nephronophthisis
  • Occipital meningocele
  • Polydactyly
  • Retinal dystrophy