Delayed Presentation of Rickets in a Child with Labyrinthine Aplasia, Microtia and Microdontia (LAMM) Syndrome.
Indian Pediatr
;
2014 Nov; 51(11): 919-920
Artigo
em Inglês
| IMSEAR
| ID: sea-170912
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2014
Tipo de documento:
Artigo
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