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Page 1
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
Malan syndrome is an overgrowth disorder described in a limited number of individuals. ...We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. ...
Malan syndrome is an overgrowth disorder described in a limited number of individuals. ...We conclude that Malan syndrome has …
NFIX-Related Malan Syndrome.
Priolo M. Priolo M. 2024 Aug 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Aug 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 39083629 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: NFIX-related Malan syndrome (MALNS) is characterized by prenatal and postnatal overgrowth, macrocephaly, advanced bone age and/or skeletal anomalies (scoliosis, pes planus), slender body habitus, developmental delay / intellectual disability (typi …
CLINICAL CHARACTERISTICS: NFIX-related Malan syndrome (MALNS) is characterized by prenatal and postnatal overgrowth, macrocephaly, ad …
Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.
Bellucco FT, de Mello CB, Meloni VA, Melaragno MI. Bellucco FT, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e997. doi: 10.1002/mgg3.997. Epub 2019 Oct 1. Mol Genet Genomic Med. 2019. PMID: 31574590 Free PMC article. Review.
BACKGROUND: Malan syndrome is a recently introduced overgrowth disorder described in a limited number of individuals. ...METHODS: Here, we report the first Brazilian case of Malan syndrome caused by a 990 kb deletion in 19p13.2p13.12, focusing on clinical and behavi …
BACKGROUND: Malan syndrome is a recently introduced overgrowth disorder described in a limited number of individuals. ...METHODS: Her …
Natural history in Malan syndrome: survey of 28 adults and literature review.
Huynh TN, Delagrammatikas CG, Chiriatti L, Panfili A, Ventarola K, Menke LA, Tartaglia M, Huisman SA, Priolo M. Huynh TN, et al. Orphanet J Rare Dis. 2024 Jul 29;19(1):282. doi: 10.1186/s13023-024-03288-6. Orphanet J Rare Dis. 2024. PMID: 39075508 Free PMC article. Review.
BACKGROUND: Malan syndrome (MALNS), previously referred to as "Sotos syndrome 2" due to its resemblance to Sotos syndrome (SS), is an ultra-rare neurodevelopmental disorder characterized by overgrowth, typical craniofacial features, intellectual disability (ID), and a rang …
BACKGROUND: Malan syndrome (MALNS), previously referred to as "Sotos syndrome 2" due to its resemblance to Sotos syndrome (SS), is an …
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH. Klaassens M, et al. Eur J Hum Genet. 2015 May;23(5):610-5. doi: 10.1038/ejhg.2014.162. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118028 Free PMC article. Review.
Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated …
Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-li …
Variable expressivity of Malan syndrome.
Dutta AK. Dutta AK. BMJ Case Rep. 2024 Oct 17;17(10):e260787. doi: 10.1136/bcr-2024-260787. BMJ Case Rep. 2024. Retraction in: BMJ Case Rep. 2025 May 13;18(5):e260787ret. doi: 10.1136/bcr-2024-260787ret. PMID: 39419602 Retracted.
The child and his mother had many features consistent with a genetic diagnosis of Malan syndrome. Therefore, this family highlighted the variable expressivity of Malan syndrome....
The child and his mother had many features consistent with a genetic diagnosis of Malan syndrome. Therefore, this family highlighted …
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M. Jezela-Stanek A, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Epub 2016 Feb 29. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 26927468 Free article. Review.
BACKGROUND AND AIM: Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of the NFIX gene located on chromosome 19p13.2. ...
BACKGROUND AND AIM: Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of th …
Introduction.
Agostoni P, Piepoli M. Agostoni P, et al. Eur J Prev Cardiol. 2023 Oct 11;30(Supplement_2):ii1. doi: 10.1093/eurjpc/zwad268. Eur J Prev Cardiol. 2023. PMID: 37819219 No abstract available.
Reply.
Egloff M, Malan V. Egloff M, et al. Ultrasound Obstet Gynecol. 2019 Apr;53(4):555. doi: 10.1002/uog.20253. Ultrasound Obstet Gynecol. 2019. PMID: 30938480 Free article. No abstract available.
Malan syndrome: Extension of genotype and phenotype spectrum.
Rai A, Narayanan DL, Phadke SR. Rai A, et al. Am J Med Genet A. 2018 Dec;176(12):2896-2900. doi: 10.1002/ajmg.a.40663. Epub 2018 Dec 10. Am J Med Genet A. 2018. PMID: 30548146
Malan syndrome and Marshall-Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. We report a 3-year- 6 months- old female with clinical features suggestive of Malan syndrome with mutation in exon 2 of NFIX gene. NFIX gene, where most of the mu …
Malan syndrome and Marshall-Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. We report a 3-year- 6 months- …
1,955 results