Craniosynostosis, psychomotor retardation, and facial dysmorphic features in a Spanish patient with a 4q27q28.3 deletion

Case report 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 c...

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Bibliographic Details
Published in:Child's nervous system 2014-12, Vol.30 (12), p.2157-2161
Main Authors: Fernández-Jaén, Alberto, Fernández-Perrone, Ana Laura, Fernández-Mayoralas, Daniel Martín, Calleja-Pérez, Beatriz, Sánchez-Hombre, María del Carmen, Fernández, Ester Corbacho, López-Martín, Sara
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Case Report
Child
Chromosome Deletion
Chromosomes, Human, Pair 4 - genetics
Craniofacial Abnormalities
Craniosynostoses - genetics
Facies
Fetal Growth Retardation - genetics
Fibroblast Growth Factor 2 - genetics
Genetic Association Studies
Genetic Counseling
Genetic Predisposition to Disease - genetics
Genotype
Humans
Intellectual Disability - genetics
Male
Medicine
Medicine & Public Health
Membrane Proteins - genetics
Muscular Atrophy - genetics
Neurosciences
Neurosurgery
Phosphoproteins - genetics
Proteins - genetics
Psychomotor Disorders - genetics
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Summary:Case report 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.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-014-2474-8