Delayed Presentation of Rickets in a Child with Labyrinthine Aplasia, Microtia and Microdontia (LAMM) Syndrome.
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Date
2014-11
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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.
Description
Keywords
Deafness, Fibroblast growth factor receptor-3, Hypophosphatemic rickets
Citation
Singh Ankur, Tekin Mustafa, Falcone Michelle, Kapoor Seema. Delayed Presentation of Rickets in a Child with Labyrinthine Aplasia, Microtia and Microdontia (LAMM) Syndrome. Indian Pediatrics. 2014 Nov; 51(11): 919-920.