title: Metaphyseal dysplasia associated with chronic facial nerve palsy.
abstract: BACKGROUND
  Metaphyseal dysplasia (Pyle disease) is a rare autosomal recessive disease with impressive and characteristic radiological findings but relatively mild clinical features. It is usually incidentally diagnosed, despite the impressive radiological findings of gross metaphyseal widening and thinning of cortical bone.
  
  
  METHODS
  Herein, we report an exceptionally unusual case of metaphyseal dysplasia in association with chronic facial nerve palsy.
  
  
  CONCLUSIONS
  Chronic facial nerve palsy due to compression of the facial nerve in a patient with Pyle disease represents an unusual novelty. Furthermore, this case delineates the clinical spectrum and phenotype of such a rare clinical entity. To the best of our knowledge, this is the first time that such an association is being described.
authors: Pediatric Neurology Department, Chelsea and Westminister Hospital, 369 Fulham Road, London, SW109NH, UK.
authors: Loucas
authors: L
authors: Christodoulou
authors: Pediatric Neurology Department, Chelsea and Westminister Hospital, 369 Fulham Road, London, SW109NH, UK.
authors: Efterpi
authors: E
authors: Pavlidou
authors: Pediatric Neurology Department, Chelsea and Westminister Hospital, 369 Fulham Road, London, SW109NH, UK.
authors: Cristina
authors: C
authors: Spyridou
authors: Department of Craniofacial Surgery, Chelsea and Westminister Hospital, London, UK.
authors: Simon
authors: S
authors: Eccles
authors: Department of Radiology, Great Ormond Street Hospital, London, UK.
authors: Alistair
authors: A
authors: Calder
authors: Pediatric Neurology Department, Chelsea and Westminister Hospital, 369 Fulham Road, London, SW109NH, UK.|Department of Radiology, Chelsea and Westminister Hospital, London, UK.
authors: Kshitij
authors: K
authors: Mankad
authors: Pediatric Neurology Department, Chelsea and Westminister Hospital, 369 Fulham Road, London, SW109NH, UK. m.kinali@imperial.ac.uk.
authors: Maria
authors: M
authors: Kinali
mesh_terms: D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging; D002648:Child; D002908:Chronic Disease; D005154:Facial Nerve / Q000000981:diagnostic imaging / Q000473:pathology*; D005158:Facial Paralysis / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000150:complications*
keywords: Erlenmeyer flask sign; Facial nerve palsy; Metaphyseal dysplasia; Pyle disease