A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia

• Published in: American journal of medical genetics. Part A Vol. 155A; no. 12; pp. 3144 - 3147
• Main Authors: van Kogelenberg, Margriet, Lerone, Margherita, De Toni, Teresa, Divizia, Maria T., de Brouwer, Arjan P.M., Veltman, Joris A., van Bokhoven, Hans, Robertson, Stephen P.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.12.2011; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: Biological and medical sciences; Child; Child, Preschool; Choline-Phosphate Cytidylyltransferase - genetics; Chromosome Deletion; Chromosomes, Human, X; Cortex; Craniosynostoses - diagnosis; Craniosynostoses - genetics; Craniosynostosis; Diseases of the osteoarticular system; Facies; Fontaine-Farriaux syndrome; genomics; Hemizygosity; Humans; Infant; Infants; Kruppel-Like Transcription Factors - genetics; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; Neurodevelopmental disorders; periventricular nodular heterotopia; Periventricular Nodular Heterotopia - diagnosis; Periventricular Nodular Heterotopia - genetics; Phenotype; Protein-Serine-Threonine Kinases - genetics; Syndrome; Ventricle (lateral); X chromosomal interstitial deletion; X-chromosome inactivation; Chromosomal aberration; X chromosomal interstitial deletion; Nervous system diseases; Craniosynostosis; Diseases of the osteoarticular system; periventricular nodular heterotopia; Skull disease; Deletion; Dysostosis; Interstitial; Fontaine—Farriaux syndrome

We report on a follow‐up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine–Farriaux syndrome (FFS) as an infant although now, with improved delineation of thi...