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

Ankur Singh; Mustafa Tekin; Michelle Falcone; Seema Kapoor

doi:10.1007/s13312-014-0529-2

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

Ankur Singh, Mustafa Tekin, Michelle Falcone, Seema Kapoor

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article › peer-review

3 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 language	English (US)
Pages (from-to)	919-920
Number of pages	2
Journal	Indian Pediatrics
Volume	51
Issue number	11
DOIs	https://doi.org/10.1007/s13312-014-0529-2
State	Published - Nov 2014

Keywords

Deafness
Fibroblast growth factor receptor-3
Hypophosphatemic rickets

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1007/s13312-014-0529-2

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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.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.",

keywords = "Deafness, Fibroblast growth factor receptor-3, Hypophosphatemic rickets",

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T1 - Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome

AU - Singh, Ankur

AU - Tekin, Mustafa

AU - Falcone, Michelle

AU - Kapoor, Seema

PY - 2014/11

Y1 - 2014/11

N2 - 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.

AB - 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.

KW - Deafness

KW - Fibroblast growth factor receptor-3

KW - Hypophosphatemic rickets

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

Abstract

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