Indian pediatrics · 2014
Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Singh Ankur, Tekin Mustafa, Falcone Michelle, Kapoor Seema
Аннотация
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.
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.