Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome

Ankur Singh, Mustafa Tekin, Michelle Falcone, Seema Kapoor

Research output: Contribution to journalArticle

2 Scopus citations

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.Case characteristics: 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year.Observation: Homozygous novel missense mutation in fibroblast growth factor 3.Message: LAMM syndrome and hypophosphatemic rickets may be associated.

Original languageEnglish (US)
Pages (from-to)919-920
Number of pages2
JournalIndian Pediatrics
Volume51
Issue number11
DOIs
StatePublished - Jan 1 2014

Keywords

  • Deafness
  • Fibroblast growth factor receptor-3
  • Hypophosphatemic rickets

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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