Maxillofacial Changes in Melnick-Needles Syndrome

Hindawi Publishing Corporation Case Reports in Dentistry Volume 2016, Article ID 9685429, 7 pages http://dx.doi.org/10.1155/2016/9685429 Case Report 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 and Sandra Kalil Bussadori2,4 1 Brazilian Association of Dentistry, 57037-240 Maceió, AL, Brazil Postgraduate Program in Biophotonics Applied to Health Sciences, Nove de Julho University, 01504-001 São Paulo, SP, Brazil 3 Nove de Julho University, 01504-001 São Paulo, SP, Brazil 4 Postgraduate Program in Rehabilitation Sciences, Nove de Julho University, 01504-001 São Paulo, SP, Brazil 2 Correspondence should be addressed to Sandra Kalil Bussadori; Received 4 April 2016; Revised 8 May 2016; Accepted 14 June 2016 Academic Editor: Muawia A. Qudeimat Copyright © 2016 Leilane Larissa Albuquerque do Nascimento et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 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. 1. Introduction Melnick-Needles Syndrome (MNS; OMIM 309350) is rare congenital hereditary skeletal dysplasia first reported in 1966 by Melnick and Needles. The diagnosis was based on clinical and radiographic characteristics found in two families with some degree of bone involvement in common [1, 2]. This syndrome has an inherited pattern linked to the dominant X, in which there is deficient osteoblastic activity, resulting in characteristic clinical and radiographic findings [2, 3]. The majority of cases reported in the literature involve the female sex, because the clinical form is more severe in males, which leads to miscarriage, fetal death, or neonatal death when born from mothers with this syndrome [4, 5]. MNS is one of the four syndromes caused by mutations in the FLNA gene, which codifies the protein filamin A (Table 1); this protein is related to collagen production [3, 6, 7]. Specifically, MNS is related to a mutation in exon 22 [8]. The other syndromes are frontometaphyseal dysplasia, otopalatodigital syndrome type 1 (OPD1), and otopalatodigital syndrome type 2 (OPD2). Due to different chromosome loci, the phenotypes of these conditions differ from each other and may or may not appear in a severe form [6, 9, 10]. The main clinical and radiographic characteristics of MNS are displayed as follows [1, 10–17]. Chart of the Main Clinical and Radiographic Characteristics of Melnick-Needles Syndrome (i) Being lethal when affecting sons of mothers with MNS, (ii) Skeletal dysplasia, 2 Case Reports in Dentistry Table 1: Chart of similarities and differences between the reported syndrome and other syndromes with FLNA gene mutation. Other syndromes caused by mutations in FLNA gene Similarities between MNS and other syndromes with FLNA gene mutation Frontometaphyseal dysplasia (i) Skeletal dysplasia Otopalatodigital dysplasia type I (i) Deformities on the tips of fingers and toes (ii) Abnormal palate Otopalatodigital dysplasia type II (i) Abnormal palate Differences between MNS and other syndromes with FLNA gene mutation (i) Supraorbital hyperostosis (ii) Irregular cortex in long bones (iii) Deafness (iv) More severe skeletal and facial manifestations than OPD1 (v) Metacarpophalangeal and interphalangeal joint defects (i) Among all, the phenotype is milder in men (ii) Supraorbital hyperostosis (iii) Deafness (iv) Slightly reduced stature (i) More severe than type I (ii) Facial dimorphism (iii) Hypoplasia of thorax (iv) More accentuated anomalies in fingers and toes (v) Hydrocephalus, obstructive uropathy, heart defects, and omphalocele (vi) Most die in prenatal period or childhood (iii) No palate involvement, (iv) Shortened distal phalanges, (v) Short upper limbs, (vi) Bowing of long bones, (vii) Genu valgum, (viii) Exophthalmia, (ix) Micrognathia, (x) Rib irregularities, elongation of vertebrae, and scoliosis. The differential diagnosis should include Frank-Ter Haar Syndrome, which is an autosomal recessive disorder that has similar characteristics to MNS but includes congenital glaucoma and heart anomalies [4, 14, 18]. Some radiographic characteristics can be similar to those found in ShprintzenGoldberg Syndrome, which differs clinically from MNS by the presence of craniosynostosis and mental retardation [9, 19]. The Pierre Robin Sequence, Treacher Collins Syndrome, and Crouzon Syndrome [20–22] should also be parts of the differential diagnosis (Table 2). 2. Case Presentation A 13-year-old female patient, who was previously diagnosed with Melnick-Needles Syndrome (OMIN 309350) at eight years of age, sought dental follow-up at the Specialized Pediatric Dentistry Clinic of the Brazilian Association of Dentistry in the state of Alagoas, Brazil, accompanied by her mother. 2.1. Medical Findings. The diagnosis was based on pathognomonic and radiographic findings: small face with a prominent brow, exophthalmia, micrognathia, cranial hyperostosis, Figure 1: Presence of bowing of long bones, narrow shoulders, prominent brow, micrognathia, and her head being larger than normal. poor alignment of the teeth, short upper limbs, bowed long bones (especially the humerus and tibias), metaphyseal thickening, genu valgum, shortened distal phalanges, narrow pelvis and shoulders, tapered ribs with irregularities, elongation of the vertebrae, and kyphoscoliosis (Figures 1, 2, and 3). 2.2. Extraoral and Intraoral Findings. The extraoral photographs of the face revealed the prominent brow, exophthalmia, and micrognathia (Figures 4 and 5). Intraoral examination revealed considerably poor tooth alignment, with upper dental crowding and anterior deep bite (Figures 6, 7, and 8). Case Reports i (...truncated)