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Orthognathic surgery in Melnick-Needles-Syndrome. Case report and review of the literature.
Jung S, Wermker K, Joos U, Kleinheinz J. Jung S, et al. Int J Oral Maxillofac Surg. 2012 Mar;41(3):309-12. doi: 10.1016/j.ijom.2011.08.007. Epub 2011 Oct 19. Int J Oral Maxillofac Surg. 2012. PMID: 22014680 Review.
Melnick-Needles Syndrome (MNS) is a congenital syndrome associated with severe architectural disorder of the skeletal system that can cause significant effects on the craniofacial skeleton including poor aesthetics, impaired speech and masticatory problems. . …
Melnick-Needles Syndrome (MNS) is a congenital syndrome associated with severe architectural disorder of the skeletal s …
Correction of spine deformity in patients with Melnick-needles syndrome: report of 2 cases and literature review.
Lykissas MG, Crawford AH, Shufflebarger HL, Gaines S, Permal V. Lykissas MG, et al. J Pediatr Orthop. 2013 Mar;33(2):170-4. doi: 10.1097/BPO.0b013e3182776edb. J Pediatr Orthop. 2013. PMID: 23389572 Review.
BACKGROUND: Melnick-Needles syndrome (MNS) is a rare X-linked dominant disorder affecting the skeletal system and connective tissue. ...
BACKGROUND: Melnick-Needles syndrome (MNS) is a rare X-linked dominant disorder affecting the skeletal system and conne …
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R. Parrini E, et al. J Med Genet. 2015 Jun;52(6):405-12. doi: 10.1136/jmedgenet-2014-102959. Epub 2015 Mar 9. J Med Genet. 2015. PMID: 25755106
We describe a family in which a woman and her three daughters exhibited a complex phenotype combining PNH, epilepsy and Melnick-Needles syndrome (MNS), a skeletal disorder assigned to the OPD spectrum. ...
We describe a family in which a woman and her three daughters exhibited a complex phenotype combining PNH, epilepsy and Melnick-Ne …
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
Robertson SP. Robertson SP. Eur J Hum Genet. 2007 Jan;15(1):3-9. doi: 10.1038/sj.ejhg.5201654. Epub 2006 Aug 23. Eur J Hum Genet. 2007. PMID: 16926860
The term otopalatodigital syndrome spectrum disorders is an umbrella category that includes four phenotypically related conditions, otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick - Needles syndrome. The phenotype of these con …
The term otopalatodigital syndrome spectrum disorders is an umbrella category that includes four phenotypically related conditions, otopalat …
Mandibular distraction osteogenesis in a patient with Melnick-Needles syndrome.
Molina FM, Morales C, Taylor JA. Molina FM, et al. J Craniofac Surg. 2008 Jan;19(1):277-9. doi: 10.1097/SCS.0b013e3181577aab. J Craniofac Surg. 2008. PMID: 18216701
Melnick-Needles syndrome is an X-inked-dominant skeletal dysplasia in which there is deficient osteoblastic activity. ...To our knowledge, this is the first reported case of mandibular distraction osteogenesis used to cure obstructive sleep apnea and eliminat …
Melnick-Needles syndrome is an X-inked-dominant skeletal dysplasia in which there is deficient osteoblastic activity. . …
Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.
Roland-Billecart T, Schlund M, Lauwers L, Nicot R, Ferri J. Roland-Billecart T, et al. J Craniofac Surg. 2021 Nov-Dec 01;32(8):2823-2826. doi: 10.1097/SCS.0000000000007707. J Craniofac Surg. 2021. PMID: 34183625
Otopalatodigital syndrome spectrum disorders are a group of rare congenital skeletal dysplasia, with specific craniomaxillofacial features including otopalatodigital syndrome type 1 and type 2, Melnick-Needles syndrome, frontometaphyseal dysplasia, terminal o …
Otopalatodigital syndrome spectrum disorders are a group of rare congenital skeletal dysplasia, with specific craniomaxillofacial features i …
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity.
Dereymaeker AM, Christens J, Eeckels R, Heremans G, Fryns JP. Dereymaeker AM, et al. Helv Paediatr Acta. 1986 Oct;41(4):339-51. Helv Paediatr Acta. 1986. PMID: 3793511
In this report three female patients with Melnick-Needles syndrome are described. This skeletal dysplasia is characterized by a peculiar craniofacial dysmorphism and hoarseness of the voice, which allow early clinical suspicion. ...
In this report three female patients with Melnick-Needles syndrome are described. This skeletal dysplasia is characteri …
Melnick-Needles syndrome: indication for an autosomal recessive form.
ter Haar B, Hamel B, Hendriks J, de Jager J. ter Haar B, et al. Am J Med Genet. 1982 Dec;13(4):469-77. doi: 10.1002/ajmg.1320130418. Am J Med Genet. 1982. PMID: 7158646
We describe three patients with bone changes and the facial characteristics of the Melnick-Needles syndrome (MNS). Associated anomalies (once bilateral glaucoma, twice congenital heart defect) were the reason for referral. ...
We describe three patients with bone changes and the facial characteristics of the Melnick-Needles syndrome (MNS). Asso …
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Moutton S, et al. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193221
Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and Melnick-Needles syndrome. These …
Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopala …
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome.
Vermeiren A, Zarowski A, Fryns JP, Vanpoucke F, Somers T, Offeciers E. Vermeiren A, et al. Acta Otolaryngol. 2008 Jul;128(7):814-20. doi: 10.1080/00016480701714277. Acta Otolaryngol. 2008. PMID: 18568526
This is the first report on a successful cochlear implantation in a patient suffering from the Melnick-Needles syndrome (MNS). This case study presents an MNS patient with peri-lingual profound hearing loss, implanted at the age of 38. ...
This is the first report on a successful cochlear implantation in a patient suffering from the Melnick-Needles syndrome …
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