title: Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome.
abstract: BACKGROUND
  Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate.
  
  
  METHODS
  13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year.
  
  
  METHODS
  Homozygous novel missense mutation in fibroblast growth factor 3.
  
  
  CONCLUSIONS
  LAMM syndrome and hypophosphatemic rickets may be associated.
authors.affiliation: Department of Pediatrics, Division of Genetics, MAMC and Associated Lok Nayak Hospital, New Delhi, India; and *John P Hussman Institute for Human Genetics, University of Miami, Miller Scool of Medicine, Miami, FL, USA. Correspondence to: Dr Seema Kapoor, M-439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, India. drseemakapoor@gmail.com.
authors.forename: Ankur
authors.initials: A
authors.lastname: Singh
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
authors.forename: Michelle
authors.initials: M
authors.lastname: Falcone
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
mesh_terms: D000293:Adolescent; D065817:Congenital Microtia; D003638:Deafness; D007758:Ear, Inner / Q000002:abnormalities*; D005260:Female; D051518:Fibroblast Growth Factor 3 / Q000235:genetics*; D006319:Hearing Loss, Sensorineural; D006801:Humans; D012279:Rickets; D014071:Tooth Abnormalities
chemical_list: C496444:FGF3 protein, human; D051518:Fibroblast Growth Factor 3