A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
Adriana Amaral Carvalho,
Renato Assis Machado,
Célia Márcia Fernandes Maia
et al.
Abstract:Objective: To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T). Case description: A 6-year-old girl was evaluated during hospitalization exhibiting the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips… Show more
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