title: Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion.
abstract: METHODS
  We describe an unusual clinical case with an 11-Mb deletion at 4q27 (chr4: 123094652-134164491), craniosynostosis (CS), mild psychomotor retardation, and facial dysmorphic features. This deletion involves 18 genes; FGF2, NUDT6, and SPRY1 are primarily or secondarily implicated in human cranial bone and sagittal suture development and could play an important role in CS.
  
  
  CONCLUSIONS
  Clinicians should always contemplate genetic studies in patients with syndromic CS. Mutational targeted genetic testing is appropriate for patients with classical or specific CS syndrome. Nevertheless, array comparative genomic hybridization (array CGH) should be considered as a first-line test in nontypical syndromic CS phenotype. Cytogenetic studies are decisive for genetic counseling indeed.
authors: Pediatric Neurology Unit, Hospital Universitario Quirón Madrid, C/Diego de Velazquez 1, 28024, Pozuelo de Alarcón, Madrid, Spain, aferjaen@telefonica.net.
authors: Alberto
authors: A
authors: Fernández-Jaén
authors: Ana Laura
authors: AL
authors: Fernández-Perrone
authors: Daniel Martín
authors: DM
authors: Fernández-Mayoralas
authors: Beatriz
authors: B
authors: Calleja-Pérez
authors: María Del Carmen
authors: Mdel C
authors: Sánchez-Hombre
authors: Ester Corbacho
authors: EC
authors: Fernández
authors: Sara
authors: S
authors: López-Martín
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D019465:Craniofacial Abnormalities; D003398:Craniosynostoses / Q000235:genetics*; D019066:Facies; D005317:Fetal Growth Retardation / Q000235:genetics; D016222:Fibroblast Growth Factor 2 / Q000235:genetics; D056726:Genetic Association Studies; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009133:Muscular Atrophy / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics; D011506:Proteins / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C548962:NUDT6 protein, human; D010750:Phosphoproteins; D011506:Proteins; C486055:SPRY1 protein, human; D016222:Fibroblast Growth Factor 2