title: Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability.
abstract: Here, we report two unrelated girls with prenatal onset short stature, short neck, cervical vertebral anomalies, Sprengel deformity, and mild intellectual disability. The association of these features first suggested a syndromic form of Klippel-Feil anomaly. We therefore analyzed the three known disease causing genes and the candidate gene PAX1. However, direct sequencing of GDF6, GDF3, PAX1, and MEOX1 failed to identify any mutation. To our knowledge, the phenotype we report has not been described previously, leading us to speculate that this condition may represent a new syndrome.
authors.affiliation: CHU Nantes, Service de Génétique Médicale, Nantes, France; INSERM, UMR-S 957, 1 Rue Gaston Veil, 44035 Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Isidor
authors.affiliation: CHU Nantes, Service de Génétique Médicale, Nantes, France.
authors.forename: Albert
authors.initials: A
authors.lastname: David
mesh_terms: D000293:Adolescent; D000374:Aggression; D001827:Body Height; D002574:Cervical Vertebrae / Q000002:abnormalities*; D002648:Child; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D055451:Growth Differentiation Factor 3 / Q000235:genetics; D055431:Growth Differentiation Factor 6 / Q000235:genetics; D018398:Homeodomain Proteins; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007714:Klippel-Feil Syndrome / Q000235:genetics; D007859:Learning Disabilities / Q000235:genetics; D009333:Neck / Q000002:abnormalities*; D009770:Obsessive Behavior / Q000235:genetics; D051761:Paired Box Transcription Factors / Q000235:genetics; D012540:Scapula / Q000002:abnormalities; D012640:Seizures / Q000235:genetics; D012785:Shoulder Joint / Q000002:abnormalities; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
chemical_list: C525974:GDF3 protein, human; C525906:GDF6 protein, human; D055451:Growth Differentiation Factor 3; D055431:Growth Differentiation Factor 6; D018398:Homeodomain Proteins; C525671:MEOX1 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C070835:PAX1 transcription factor
keywords: Intellectual disability; Klippel-Feil syndrome; Short stature; Sprengel deformity