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Clinical Delineation of thePACS1-RelatedSyndrome—Report on 19 Patients

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dc.contributor.author Schuurs-Hoeijmakers, Janneke H. M.
dc.contributor.author Landsverk, Megan L.
dc.contributor.author Foulds, Nicola
dc.contributor.author Kukolich, Mary K.
dc.contributor.author Gavrilova, Ralitza H.
dc.contributor.author Greville-Heygate, Stephanie
dc.contributor.author Hanson-Kahn, Andrea
dc.contributor.author Bernstein, Jonathan A.
dc.contributor.author Glass, Jennifer
dc.contributor.author Fernández Jaén, Alberto
dc.contributor.author Et al.
dc.date.accessioned 2018-11-27T16:21:32Z
dc.date.available 2018-11-27T16:21:32Z
dc.date.issued 2016
dc.identifier.citation Schuurs‐Hoeijmakers, J. H., Landsverk, M. L., Foulds, N., Kukolich, M. K., Gavrilova, R. H., Greville‐Heygate, S., ... & DDD Study. (2016). Clinical delineation of the PACS1‐related syndrome—Report on 19 patients. American Journal of Medical Genetics Part A, 170(3), 670-67. https://doi.org/10.1002/ajmg.a.37476 spa
dc.identifier.issn 1552-4825
dc.identifier.issn 1552-4833
dc.identifier.uri http://hdl.handle.net/11268/7622
dc.description.abstract We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific mutation gives rise to a recognizable intellectual disability syndrome. There is a distinctive facial appearance (19/19), characterized by full and arched eyebrows, hypertelorism with downslanting palpebral fissures, long eye lashes, ptosis, low set and simple ears, bulbous nasal tip, wide mouth with downturned corners and a thin upper lip with an unusual "wavy" profile, flat philtrum, and diastema of the teeth. Intellectual disability, ranging from mild to moderate, was present in all. Hypotonia is common in infancy (8/19). Seizures are frequent (12/19) and respond well to anticonvulsive medication. Structural malformations are common, including heart (10/19), brain (12/16), eye (10/19), kidney (3/19), and cryptorchidism (6/12 males). Feeding dysfunction is presenting in infancy with failure to thrive (5/19), gastroesophageal reflux (6/19), and gastrostomy tube placement (4/19). There is persistence of oral motor dysfunction. We provide suggestions for clinical work-up and management and hope that the present study will facilitate clinical recognition of further cases. spa
dc.description.sponsorship Canadian Institutes of Health Research (301221) spa
dc.description.sponsorship HICF-1009-003 spa
dc.description.sponsorship WT098051 spa
dc.language.iso eng spa
dc.title Clinical Delineation of thePACS1-RelatedSyndrome—Report on 19 Patients spa
dc.type article spa
dc.description.impact 2.259 JCR (2016) Q3, 96/167 Genetics & Heredity spa
dc.identifier.doi 10.1002/ajmg.a.37476
dc.rights.accessRights closedAccess spa
dc.subject.uem Deficiencia mental spa
dc.subject.uem Anomalías cromosómicas spa
dc.subject.uem Malformaciones congénitas spa
dc.subject.unesco Deficiencia mental spa
dc.subject.unesco Cromosoma spa
dc.description.filiation UEM spa
dc.relation.publisherversion http://ezproxy.universidadeuropea.es/login?url=http:/ /dx.doi.org/10.1002/ajmg.a.37476 spa
dc.peerreviewed Si spa


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