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. 2016:2016:9685429.
doi: 10.1155/2016/9685429. Epub 2016 Jul 12.

Maxillofacial Changes in Melnick-Needles Syndrome

Leilane Larissa Albuquerque do Nascimento  1 , Monica da Consolação Canuto Salgueiro  2 , Mariana Quintela  1 , Victor Perez Teixeira  3 , Ana Carolina Costa Mota  2 , Camila Haddad Leal de Godoy  4 , Sandra Kalil Bussadori  5
Affiliations

Maxillofacial Changes in Melnick-Needles Syndrome

Leilane Larissa Albuquerque do Nascimento et al. Case Rep Dent. 2016.

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.

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Figures

Figure 1
Figure 1
Presence of bowing of long bones, narrow shoulders, prominent brow, micrognathia, and her head being larger than normal.
Figure 2
Figure 2
Presence of genu valgum (knock-knee), bowing of long bones, scoliosis, prominent brow, micrognathia, and her head being larger than normal.
Figure 3
Figure 3
Shortened distal phalanges.
Figure 4
Figure 4
Extraoral photograph of the front: prominent brow and micrognathia.
Figure 5
Figure 5
Extraoral photograph, profile: prominent brow and micrognathia.
Figure 6
Figure 6
Intraoral photographs, right side: anterior deep bite, maxillary crowding, and accentuated overjet.
Figure 7
Figure 7
Intraoral photographs, left side: anterior deep bite, maxillary crowding, and accentuated overjet.
Figure 8
Figure 8
Maxillary occlusal photograph: maxillary crowding and high palate.
Figure 9
Figure 9
Panoramic radiograph: diverse dental development anomalies, such as maxillary anterior crowding and impacted teeth.
Figure 10
Figure 10
Teleradiography: no proportionality between the effective lengths of the maxilla and mandible.
See this image and copyright information in PMC

References

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