Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome.
نویسندگان
چکیده
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.
منابع مشابه
A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome)
LAMM syndrome (OMIM #610706) is a rare autosomal recessive syndrome characterized by the association of Michel aplasia, microdontia and malformation of the external ear. Different mutations in FGF3 gene were reported in several families presenting with this syndrome. Clinical features and genetic results observed in a family with LAMM syndrome are reported. The diagnosis of isolated Michel apla...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 51 11 شماره
صفحات -
تاریخ انتشار 2014