Clinical and radiological aspects in Melnick-Needles syndrome

Albano, Lilian Maria José; Chong, Anne‐Sophie; Lee, Vivian K.; Sugayama, Sofia Mizuho Miura; Barba, Mario Flores; Utagawa, Claudia Yamada; Bertola, Débora Romeo; Gonzalez, Claudette Hajaj

doi:10.1590/s0041-87811999000200007

Cited by 9 publications

(6 citation statements)

References 12 publications

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“…Individuals with MNS have a particular facial appearance with prominent, widely-spaced eyes, full cheeks, small facial bones, and an unusually small lower jaw (micrognathia). The skull may be slow to develop and the way in which affected individuals bring their teeth together (bite) may be abnormal.The upper arms and the last bones in the fingers (distal phalanges) may be shorter than normal 2,3,4 . One of the short bones of the arm (radius) and of the leg (fibula) may be bowed.…”

Section: Discussion:-mentioning

confidence: 96%

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Melnick Needle Syndrome: A Rare Case Report and Review.

M.D.S¹,

Baskaran²,

M.D.S³

et al. 2016

IJAR

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Section: Discussion:-mentioning

confidence: 96%

“…The differential diagnosis of Melnick-Neddles syndrome includes Frontometaphyseal dysplasia 2 , Otopalatodigital type II syndrome and Serpentine fibulae associated with polycistic kidneys and other anomalies because of some similar radiological and clinical findings. 1,2…”

Section: Discussion:-mentioning

confidence: 99%

Melnick Needle Syndrome: A Rare Case Report and Review.

M.D.S¹,

Baskaran²,

M.D.S³

et al. 2016

IJAR

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“…In some cases reported in the literature, the authors described hypoplasia of the coronoid process of the mandible and shortening of the rami. Moreover, the absence of premolars or molars and impaction of second and third molars is something common [ 14 , 16 , 17 ]. Thus, the dental treatment of patients with MNS requires individualized and multidisciplinary attention in order to fix, when possible, dental-skeletal deformities or at least attenuate them.…”

Section: Discussionmentioning

confidence: 99%

Maxillofacial Changes in Melnick-Needles Syndrome

Nascimento

Salgueiro

Quintela

et al. 2016

Case Reports in Dentistry

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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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“…Melnick-Needles syndrome: case 1 A 14-year-old white female patient previously reported (Albano et al, 1999) was hospitalized with persistent cough and dyspnoea, which required continuous oxygen supplementation. Her height was 133.5 cm and her weight was 27 kg (3 SD below the mean, died at 19 years of age due to a pulmonary haemorrhage).…”

Section: Clinical Reportsmentioning

confidence: 99%

Phenotypic overlap in Melnick–Needles, serpentine fibula–polycystic kidney and Hajdu–Cheney syndromes: a clinical and molecular study in three patients

Albano

Bertola

Barba³

et al. 2007

Clinical Dysmorphology

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Several disorders characterized primarily by anomalies of the skeleton have recently been shown to be caused by mutations in the X-linked gene, FLNA. One of these conditions, the Melnick-Needles syndrome exhibits a phenotype that shares overlap with that of serpentine fibula-polycystic kidney syndrome and the autosomal dominant condition, Hajdu-Cheney syndrome. Here, we describe three individuals with these diagnoses. The individual with serpentine fibula-polycystic kidney syndrome, the fifth case reported in the literature, exhibited wormian bones which further expands the phenotypic spectrum for this condition and extends the overlap with Hajdu-Cheney syndrome. All three members of the filamin gene family, FLNA, and its functionally related paralogues, FLNB and FLNC, were screened for pathogenic mutations in all three individuals. We found a mutation in FLNA in the individual with Melnick-Needles syndrome, but no pathogenic variants in any filamin gene in the two individuals with Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome. Clinical and molecular evidence indicates that Melnick-Needles syndrome is aetiologically distinct from Hajdu-Cheney syndrome and serpentine fibula-polycystic kidney syndrome, but these two latter conditions share many clinical similarities and may prove to be allelic to one another.

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Clinical and radiological aspects in Melnick-Needles syndrome

Cited by 9 publications

References 12 publications

Melnick Needle Syndrome: A Rare Case Report and Review.

Melnick Needle Syndrome: A Rare Case Report and Review.

Maxillofacial Changes in Melnick-Needles Syndrome

Phenotypic overlap in Melnick–Needles, serpentine fibula–polycystic kidney and Hajdu–Cheney syndromes: a clinical and molecular study in three patients

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