Further delineation of Malan syndrome

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compa...

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Published in:	Human mutation Vol. 39; no. 9; pp. 1226 - 1237
Main Authors:	Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Haeringen, Arie, Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.
Format:	Journal Article
Language:	English
Published:	United States Hindawi Limited 01-09-2018 Wiley John Wiley and Sons Inc
Subjects:	Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Adolescent Adult Anxiety Body height Bone Diseases, Developmental - genetics Bone Diseases, Developmental - physiopathology Child Child, Preschool Children Chromosome Deletion Congenital Hypothyroidism - genetics Congenital Hypothyroidism - physiopathology Craniofacial Abnormalities - genetics Craniofacial Abnormalities - physiopathology Developmental Disabilities - genetics Developmental Disabilities - physiopathology Epilepsy Exons - genetics Female Genotypes Hand Deformities, Congenital - genetics Hand Deformities, Congenital - physiopathology Humans Intellectual Disability - genetics Intellectual Disability - physiopathology Life Sciences Macrocephaly Malan syndrome Male Marshall‐Smith syndrome Megalencephaly - genetics Megalencephaly - physiopathology Mutation, Missense - genetics NFI Transcription Factors - genetics NFIX Phenotype Phenotypes phenotype‐genotype Septo-Optic Dysplasia - genetics Septo-Optic Dysplasia - physiopathology Sotos syndrome Sotos Syndrome - genetics Sotos Syndrome - physiopathology Stop codon Weaver syndrome Young Adult phenotype phenotype-genotype NFIX Sotos syndrome Malan syndrome Weaver syndrome Marshall-Smith syndrome Bone Diseases Developmental Developmental Disabilities Exons Humans Male Hand Deformities Young Adult Female Adult Craniofacial Abnormalities Septo-Optic Dysplasia Child Intellectual Disability Chromosome Deletion Multiple Congenital Abnormalities Preschool NFI Transcription Factors Congenital Hypothyroidism Megalencephaly Adolescent Mutation Missense Sotos Syndrome
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Abstract	Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype‐phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall‐Smith syndrome can be discerned by differences in the site of stop codon formation. 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. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. Malan is an overgrowth syndrome caused by NFIX variants, likely as frequent as other overgrowth syndromes. The overgrowth is present at birth but no longer evident in half of the adults. Facial characteristics are different from Sotos syndrome, clinical evaluation in itself allows differentiation of the two entities, and the designation “Sotos type 2” is no longer acceptable. NFIX variants can also cause Marshall‐Smith syndrome, but with a different site of the stop codon, which explains the differences in phenotypes.
AbstractList	Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is~\textgreater~2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. 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. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype‐phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall‐Smith syndrome can be discerned by differences in the site of stop codon formation. 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. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. Malan is an overgrowth syndrome caused by NFIX variants, likely as frequent as other overgrowth syndromes. The overgrowth is present at birth but no longer evident in half of the adults. Facial characteristics are different from Sotos syndrome, clinical evaluation in itself allows differentiation of the two entities, and the designation “Sotos type 2” is no longer acceptable. NFIX variants can also cause Marshall‐Smith syndrome, but with a different site of the stop codon, which explains the differences in phenotypes. Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype‐phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall‐Smith syndrome can be discerned by differences in the site of stop codon formation. 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. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype‐phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall‐Smith syndrome can be discerned by differences in the site of stop codon formation. 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. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. 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. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only.
Author	Priolo, Manuela Cole, Trevor Price, Sue Plomp, Astrid S. Elcioglu, Nursel H. Kaiser, Ann‐Sophie Coubes, Christine Santos‐Simarro, Fernando Kooblall, Kreepa Haeringen, Arie Suri, Mohnish Mirzaa, Ghayda M. Tatton‐Brown, Katrin Iascone, Maria Pintomalli, Letizia Dapia, Irene Pisanti, Maria Antonietta Maas, Saskia M. Hennekam, Raoul C. Foster, Alison Arias, Pedro Fahrner, Jill A. Mathijssen, Inge B. Alkuraya, Fowzan S. Tenorio, Jair González, Noelia García Bernardini, Laura Valdez, Rita Maria Acero, Inés Hernández Bijlsma, Emilia K. Kamath, Arveen Lapunzina, Pablo Hagen, Johanna M. Smithson, Sarah McKee, Shane Neubauer, Dorothee Montgomery, Tara Shaw‐Smith, Charles Sarda, Pierre Huber, Ilka Davies, Sally Thakker, Rajesh V. Liebelt, Jan Zollino, Marcela Menke, Leonie A. Schanze, Denny Zenker, Martin Mammì, Corrado Lynch, Sally Ann Salter, Claire Neumann, Thomas E. Di Donato, Nataliya Mulder, Paul A. Segovia, Mabel
AuthorAffiliation	3 Division of Genetics and Epidemiology Institute of Cancer Research London and South West Thames Regional Genetics Service St. George's University Hospitals NHS Foundation Trust London UK 36 University Hospitals Bristol NHS Trust Bristol UK 30 Mitteldeutscher Praxisverbund Humangenetik Halle Germany 1 Unità Operativa di Genetica Medica Grande Ospedale Metropolitano Bianchi‐Melacrino‐Morelli Reggio Calabria Italy 10 Department of Clinical Genetics Leiden University Medical Centre Leiden The Netherlands 6 Academic Endocrine Unit Radcliffe Department of Medicine University of Oxford Oxford UK 22 Institute of Medical Genetics University Hospital of Wales Cardiff UK 13 Institute of Medical Genetics University Hospital of Wales Cardiff UK 28 Center for Integrative Brain Research Seattle Children's Research Institute and Department of Human Genetics, University of Washington Seattle Washington 9 Cytogenetics Unit Casa Sollievo della Sofferenza Foundation San Giovanni Rotondo Italy 21 Institute of Huma
AuthorAffiliation_xml	– name: 22 Institute of Medical Genetics University Hospital of Wales Cardiff UK – name: 10 Department of Clinical Genetics Leiden University Medical Centre Leiden The Netherlands – name: 35 Royal Devon and Exeter NHS Foundation Trust Exeter UK – name: 37 Nottingham Clinical Genetics Service Nottingham University Hospitals NHS Trust Nottingham UK – name: 11 Department of Clinical Genetics Birmingham Women's and Children's NHS Foundation Trust Birmingham UK – name: 9 Cytogenetics Unit Casa Sollievo della Sofferenza Foundation San Giovanni Rotondo Italy – name: 3 Division of Genetics and Epidemiology Institute of Cancer Research London and South West Thames Regional Genetics Service St. George's University Hospitals NHS Foundation Trust London UK – name: 28 Center for Integrative Brain Research Seattle Children's Research Institute and Department of Human Genetics, University of Washington Seattle Washington – name: 14 Institute for Clinical Genetics TU Dresden Dresden Germany – name: 21 Institute of Human Genetics Heidelberg University Heidelberg Germany – name: 2 Institute of Human Genetics University Hospital Magdeburg Magdeburg Germany – name: 24 UCD Academic Centre on Rare Diseases School of Medicine and Medical Sciences University College Dublin and Clinical Genetics Temple Street Children's University Hospital Dublin Ireland – name: 40 Department of Laboratory Medicine Institute of Medical Genetics Catholic University Rome Italy – name: 7 Genetics Unit, Hospital Universitario Central de Asturias Oviedo Spain – name: 26 Belfast HSC Trust Northern Ireland Regional Genetics Service Belfast Northern Ireland – name: 39 Department of Clinical Genetics VU University Medical Centre Amsterdam The Netherlands – name: 18 Unit Hospital Universitario Central de Asturias Oviedo Spain – name: 32 Department of Clinical Genetics Northampton General Hospital NHS Trust Northampton UK – name: 16 McKusick‐Nathans Institute of Genetic Medicine Department of Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland – name: 30 Mitteldeutscher Praxisverbund Humangenetik Halle Germany – name: 19 Sørland Hospital Kristiansand Norway – name: 4 Autism Team Northern‐Netherlands Jonx Department of Youth Mental Health Lentis Psychiatric Institute Groningen The Netherlands – name: 1 Unità Operativa di Genetica Medica Grande Ospedale Metropolitano Bianchi‐Melacrino‐Morelli Reggio Calabria Italy – name: 31 Medical Genetic and Laboratory Unit “Antonio Cardarelli” Hospital Naples Italy – name: 25 Department of Clinical Genetics Academic Medical Center Amsterdam The Netherlands – name: 8 Saudi Human Genome Project King Abdulaziz City for Science and Technology and Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia – name: 13 Institute of Medical Genetics University Hospital of Wales Cardiff UK – name: 38 Genetics Unit, Hospital Militar Central “Cirujano Mayor Dr. Cosme Argerich,” Buenos Aires Argentina – name: 12 Département de Génétique Médicale Hôpital Arnaud de Villeneuve CHRU Montpellier Montpellier France – name: 6 Academic Endocrine Unit Radcliffe Department of Medicine University of Oxford Oxford UK – name: 15 Department of Pediatric Genetics Marmara University Medical School, Istanbul, and Eastern Mediterranean University Mersin Turkey – name: 20 Laboratorio di Genetica Medica ASST Papa Giovanni XXIII Bergamo Italy – name: 27 Department of Pediatrics Academic Medical Center University of Amsterdam Amsterdam The Netherlands – name: 36 University Hospitals Bristol NHS Trust Bristol UK – name: 5 Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz IdiPAZ Universidad Autónoma de Madrid and CIBERER Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII Madrid Spain – name: 23 South Australian Clinical Genetics Services SA Pathology North Adelaide Australia – name: 34 CENAGEM Centro Nacional de Genética Buenos Aires Argentina – name: 33 Wessex Clinical Genetics Service Princess Ann Hospital Southampton UK – name: 29 Newcastle upon Tyne NHS Foundation Trust Newcastle upon Tyne UK – name: 17 Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences University of Birmingham Birmingham UK
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Copyright	2018 The Authors. published by Wiley Periodicals, Inc. 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc. 2018 Wiley Periodicals, Inc. Distributed under a Creative Commons Attribution 4.0 International License
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Issue	9
Keywords	phenotype phenotype-genotype NFIX Sotos syndrome Malan syndrome Weaver syndrome Marshall-Smith syndrome Bone Diseases Developmental Developmental Disabilities Exons Humans Male Hand Deformities Young Adult Female Adult Craniofacial Abnormalities Septo-Optic Dysplasia Child Intellectual Disability Chromosome Deletion Multiple Congenital Abnormalities Preschool NFI Transcription Factors Congenital Hypothyroidism Megalencephaly Adolescent Mutation Missense Sotos Syndrome
Language	English
License	Attribution 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc. Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0 This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
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Notes	These authors contributed equally to the manuscript. Communicating Editor: Stephen Robertson PMCID: PMC6175110
ORCID	0000-0002-6745-1522
OpenAccessLink	https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fhumu.23563
PMID	29897170
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PageCount	12
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PublicationCentury	2000
PublicationDate	September 2018
PublicationDateYYYYMMDD	2018-09-01
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PublicationPlace	United States
PublicationPlace_xml	– name: United States – name: Hoboken
PublicationTitle	Human mutation
PublicationTitleAlternate	Hum Mutat
PublicationYear	2018
Publisher	Hindawi Limited Wiley John Wiley and Sons Inc
Publisher_xml	– name: Hindawi Limited – name: Wiley – name: John Wiley and Sons Inc
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724 year: 2015 ident: 10.1002/humu.23563-BIB0028\|humu23563-cit-0028 article-title: An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation publication-title: American Journal of Medical Genetics doi: 10.1002/ajmg.a.36959 contributor: fullname: Shimojima – volume: 161A start-page: 1105 year: 2013 ident: 10.1002/humu.23563-BIB0023\|humu23563-cit-0023 article-title: Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A publication-title: American Journal of Medical Genetics doi: 10.1002/ajmg.a.35790 contributor: fullname: Nimmakayalu – volume: 18 start-page: 1302 year: 2010 ident: 10.1002/humu.23563-BIB0003\|humu23563-cit-0003 article-title: Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions publication-title: European Journal of Human Genetics doi: 10.1038/ejhg.2010.115 contributor: fullname: Bonaglia – volume: 55 start-page: 973 year: 2011 ident: 10.1002/humu.23563-BIB0034\|humu23563-cit-0034 article-title: Development and behaviour in Marshall-Smith syndrome: An exploratory study of cognition, phenotype and autism publication-title: Journal of Intellectual Disability Research doi: 10.1111/j.1365-2788.2011.01451.x contributor: fullname: Balkom – volume: 16 start-page: 665 year: 2015 ident: 10.1002/humu.23563-BIB0018\|humu23563-cit-0018 article-title: Nonsense-mediated mRNA decay: An intricate machinery that shapes transcriptomes publication-title: Nature Reviews Molecular Cell Biology doi: 10.1038/nrm4063 contributor: fullname: Lykke-Andersen – volume: 11 start-page: e0162832 year: 2016 ident: 10.1002/humu.23563-BIB0035\|humu23563-cit-0035 article-title: The Arginine/Lysine-rich element within the DNA-binding domain is essential for nuclear localization and function of the intracellular pathogen resistance publication-title: PLoS ONE doi: 10.1371/journal.pone.0162832 contributor: fullname: Yao – volume: 167 start-page: 2839 year: 2015 ident: 10.1002/humu.23563-BIB0009\|humu23563-cit-0009 article-title: Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities publication-title: American Journal of Medical Genetics doi: 10.1002/ajmg.a.37280 contributor: fullname: Jorge – volume: 14 start-page: 65 year: 2004 ident: 10.1002/humu.23563-BIB0017\|humu23563-cit-0017 article-title: Ski and SnoN: Negative regulators of TGF-βsignaling publication-title: Current Opinion in Genetics & Development doi: 10.1016/j.gde.2003.11.003 contributor: fullname: Luo
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Snippet	Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected...
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SubjectTerms	Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Adolescent Adult Anxiety Body height Bone Diseases, Developmental - genetics Bone Diseases, Developmental - physiopathology Child Child, Preschool Children Chromosome Deletion Congenital Hypothyroidism - genetics Congenital Hypothyroidism - physiopathology Craniofacial Abnormalities - genetics Craniofacial Abnormalities - physiopathology Developmental Disabilities - genetics Developmental Disabilities - physiopathology Epilepsy Exons - genetics Female Genotypes Hand Deformities, Congenital - genetics Hand Deformities, Congenital - physiopathology Humans Intellectual Disability - genetics Intellectual Disability - physiopathology Life Sciences Macrocephaly Malan syndrome Male Marshall‐Smith syndrome Megalencephaly - genetics Megalencephaly - physiopathology Mutation, Missense - genetics NFI Transcription Factors - genetics NFIX Phenotype Phenotypes phenotype‐genotype Septo-Optic Dysplasia - genetics Septo-Optic Dysplasia - physiopathology Sotos syndrome Sotos Syndrome - genetics Sotos Syndrome - physiopathology Stop codon Weaver syndrome Young Adult
Title	Further delineation of Malan syndrome
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