{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:40:05Z","timestamp":1756370405268,"version":"3.44.0"},"reference-count":19,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,7,17]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>A female child was admitted to our centre with the chief complaints of recurrent cough and cold and breathing difficulties since day 20 of birth, bowing of both legs for the last 3 years, inability to gain weight for the last 2 years and easy fatigue. She had dysmorphic features characteristic of Melnick-Needles syndrome (MNS). Her mother also had similar phenotypic features.<\/jats:p>\n               <jats:p>Whole exome sequencing picked up a heterozygous, missense, pathogenic variant (c.3562G&gt;A) in <jats:italic>FLNA<\/jats:italic> that results in the amino acid substitution of threonine for alanine at the codon 1188 (p.Ala1188Thr; ENST00000369850.10).<\/jats:p>\n               <jats:p>MNS (OMIM: #309350) belongs to a class of five X-linked disorders called otopalatodigital spectrum disorders that have similar clinical characteristics. The multitude of symptoms in MNS indicates the critical role of <jats:italic>FLNA<\/jats:italic> in multisystem organogenesis. Variable expressivity in patients may be due to epigenetic modifications. Challenges in genetic counselling were encountered in this case, which could be resolved with multiple counselling sessions.<\/jats:p>","DOI":"10.1136\/bcr-2024-263463","type":"journal-article","created":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T06:20:12Z","timestamp":1754029212000},"page":"e263463","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical characteristics and genetic findings of Melnick-Needles syndrome due to mutation of <i>FLNA<\/i> and the genetic counselling challenges experienced: a rare report from a tertiary care centre in South India"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1849-0872","authenticated-orcid":false,"given":"Suranjana","family":"Banik","sequence":"first","affiliation":[{"name":"Clinical Genetics, Christian Medical College and Hospital Vellore, Vellore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumita","family":"Danda","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Christian Medical College and Hospital Vellore, Vellore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sridhar","family":"Gibikote","sequence":"additional","affiliation":[{"name":"Radiodiagnosis, Christian Medical College and Hospital Vellore, Vellore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,7,31]]},"reference":[{"key":"2025082800583106000_18.7.e263463.1","first-page":"5891024","article-title":"Craniofacial and Dental Manifestations of Melnick-Needles Syndrome: Literature Review and Orthodontic Management","volume":"2018","author":"Kustrzycka","year":"2018","journal-title":"Case Rep Pediatr"},{"key":"2025082800583106000_18.7.e263463.2","first-page":"88","article-title":"Fibular lengthening procedure: treatment for lateral instability of the ankle caused by fibular insufficiency in Melnick-Needles syndrome","volume":"13","author":"Unal","year":"2004","journal-title":"J Pediatr Orthop B"},{"key":"2025082800583106000_18.7.e263463.3","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1212\/01.WNL.0000132818.84827.4D","article-title":"Germline and mosaic mutations of FLN1 in men with periventricular heterotopia","volume":"63","author":"Guerrini","year":"2004","journal-title":"Neurology (ECronicon)"},{"key":"2025082800583106000_18.7.e263463.4","doi-asserted-by":"crossref","DOI":"10.1016\/j.ijscr.2023.108658","article-title":"A new case of Melnick-Needles syndrome with skeletal manifestations: A case report","volume":"110","author":"Zargarbashi","year":"2023","journal-title":"Int J Surg Case Rep"},{"key":"2025082800583106000_18.7.e263463.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng1119"},{"key":"2025082800583106000_18.7.e263463.6","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D","article-title":"Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia","volume":"90","author":"Verloes","year":"2000","journal-title":"Am J Med Genet"},{"key":"2025082800583106000_18.7.e263463.7","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1111\/j.1399-0004.1983.tb00448.x","article-title":"Biochemical abnormalities in connective tissue of osteodysplasty of Melnick-Needles and dyssegmental dwarfism","volume":"23","author":"Svejcar","year":"1983","journal-title":"Clin Genet"},{"key":"2025082800583106000_18.7.e263463.8","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/ajmg.10245","article-title":"Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear","volume":"108","author":"Kristiansen","year":"2002","journal-title":"Am J Med Genet"},{"key":"2025082800583106000_18.7.e263463.9","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/ajmg.1320270117","article-title":"Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome","volume":"27","author":"Donnenfeld","year":"1987","journal-title":"Am J Med Genet"},{"key":"2025082800583106000_18.7.e263463.10","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<341::AID-AJMG16>3.0.CO;2-K","article-title":"Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? 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