Author/Authors :
Albuquerque do Nascimento, Leilane Larissa Brazilian Association of Dentistry, Maceio, AL, Brazil , Consolação Canuto Salgueiro, Monica da Postgraduate Program in Biophotonics Applied to Health Sciences - Nove de Julho University, Sao Paulo, SP, Brazil , Quintela, Mariana Brazilian Association of Dentistry, Maceio, AL, Brazil , Perez Teixeira, Victor Nove de Julho University, Sao Paulo, SP, Brazil , Carolina Costa Mota, Ana Postgraduate Program in Biophotonics Applied to Health Sciences - Nove de Julho University, Sao Paulo, SP, Brazil , Haddad Leal de Godoy, Camila Postgraduate Program in Rehabilitation Sciences - Nove de Julho University, Sao Paulo, SP, Brazil , Bussadori, Sandra Kalil Postgraduate Program in Rehabilitation Sciences - Nove de Julho University, Sao Paulo, SP, Brazil
Abstract :
Background. Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene,
which codifies the protein filamin A. This condition leads to serious skeletal abnormalities, including the stomatognathic region.
Case Presentation. This paper describes the case of a 13-year-old girl diagnosed with Melnick-Needles Syndrome presenting with
different forms of skeletal dysplasia, such as cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening,
genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of
the vertebrae, kyphoscoliosis, micrognathia, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting
ossification, and dental development anomalies. Conclusion. Knowledge of this rare syndrome on the part of dentists is important
due to the fact that this condition involves severe abnormalities of the stomatognathic system that cause an impact on the
development of the entire face as well as functional and esthetic impairments.
