Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome

Valeria Capra; Patrizia De Marco; Elisa Merello; Ave Maria Baffico; Maurizia Baldi; Maria Teresa Divizia; Stefania Gimelli; Delphine Mallet; Alessandro Raso; Samantha Mascelli; Paolo Tomà; Andrea Rossi; Marco Pavanello; Armando Cama; Cinzia Magnani

doi:10.1016/j.ejmg.2008.10.005

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome

Valeria Capra, Patrizia De Marco, Elisa Merello, Ave Maria Baffico, Maurizia Baldi, Maria Teresa Divizia, Stefania Gimelli, Delphine Mallet, Alessandro Raso, Samantha Mascelli, Paolo Tomà, Andrea Rossi, Marco Pavanello, Armando Cama, Cinzia Magnani

Research output: Contribution to journal › Article › peer-review

Abstract

We report on clinical and molecular findings of two brothers that both presented with sagittal craniosynostosis, hydrocephalus, Chiari I malformation, blepharophimosis, small low-set ears, hypoplastic philtrum, radioulnar synostosis, kidney malformation, and hypogenitalism. Their father presented mild brachydactyly. Conventional cytogenetic and array CGH screening did not show any chromosomal gains or losses. Furthermore, molecular genetic screening of genes involved in different craniosynostosis syndromes, namely FGFR1, FGFR2, FGFR3, TWIST, RECQL4, and POR genes failed to detect any mutations in genomic DNA. The unique range of clinical manifestations in these two patients and the negative findings of the molecular genetic screening suggest the hypothesis of a previously unrecognized syndrome.

Original language	English
Pages (from-to)	17-22
Number of pages	6
Journal	European Journal of Medical Genetics
Volume	52
Issue number	1
DOIs	https://doi.org/10.1016/j.ejmg.2008.10.005
Publication status	Published - Jan 2009

Keywords

Blepharophimosis
Chiari I malformation
Craniosynostosis
Hydrocephalus
Hypogenitalism
Radioulnar synostosis

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Capra, V., De Marco, P., Merello, E., Baffico, A. M., Baldi, M., Divizia, M. T., Gimelli, S., Mallet, D., Raso, A., Mascelli, S., Tomà, P., Rossi, A., Pavanello, M., Cama, A., & Magnani, C. (2009). Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome. European Journal of Medical Genetics, 52(1), 17-22. https://doi.org/10.1016/j.ejmg.2008.10.005

Capra, V , De Marco, P, Merello, E, Baffico, AM, Baldi, M, Divizia, MT, Gimelli, S, Mallet, D, Raso, A, Mascelli, S, Tomà, P , Rossi, A , Pavanello, M , Cama, A & Magnani, C 2009, 'Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome', European Journal of Medical Genetics, vol. 52, no. 1, pp. 17-22. https://doi.org/10.1016/j.ejmg.2008.10.005

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title = "Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome",

abstract = "We report on clinical and molecular findings of two brothers that both presented with sagittal craniosynostosis, hydrocephalus, Chiari I malformation, blepharophimosis, small low-set ears, hypoplastic philtrum, radioulnar synostosis, kidney malformation, and hypogenitalism. Their father presented mild brachydactyly. Conventional cytogenetic and array CGH screening did not show any chromosomal gains or losses. Furthermore, molecular genetic screening of genes involved in different craniosynostosis syndromes, namely FGFR1, FGFR2, FGFR3, TWIST, RECQL4, and POR genes failed to detect any mutations in genomic DNA. The unique range of clinical manifestations in these two patients and the negative findings of the molecular genetic screening suggest the hypothesis of a previously unrecognized syndrome.",

keywords = "Blepharophimosis, Chiari I malformation, Craniosynostosis, Hydrocephalus, Hypogenitalism, Radioulnar synostosis",

author = "Valeria Capra and {De Marco}, Patrizia and Elisa Merello and Baffico, {Ave Maria} and Maurizia Baldi and Divizia, {Maria Teresa} and Stefania Gimelli and Delphine Mallet and Alessandro Raso and Samantha Mascelli and Paolo Tom{\`a} and Andrea Rossi and Marco Pavanello and Armando Cama and Cinzia Magnani",

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doi = "10.1016/j.ejmg.2008.10.005",

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AU - Capra, Valeria

AU - De Marco, Patrizia

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AU - Baffico, Ave Maria

AU - Baldi, Maurizia

AU - Divizia, Maria Teresa

AU - Gimelli, Stefania

AU - Mallet, Delphine

AU - Raso, Alessandro

AU - Mascelli, Samantha

AU - Tomà, Paolo

AU - Rossi, Andrea

AU - Pavanello, Marco

AU - Cama, Armando

AU - Magnani, Cinzia

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N2 - We report on clinical and molecular findings of two brothers that both presented with sagittal craniosynostosis, hydrocephalus, Chiari I malformation, blepharophimosis, small low-set ears, hypoplastic philtrum, radioulnar synostosis, kidney malformation, and hypogenitalism. Their father presented mild brachydactyly. Conventional cytogenetic and array CGH screening did not show any chromosomal gains or losses. Furthermore, molecular genetic screening of genes involved in different craniosynostosis syndromes, namely FGFR1, FGFR2, FGFR3, TWIST, RECQL4, and POR genes failed to detect any mutations in genomic DNA. The unique range of clinical manifestations in these two patients and the negative findings of the molecular genetic screening suggest the hypothesis of a previously unrecognized syndrome.

AB - We report on clinical and molecular findings of two brothers that both presented with sagittal craniosynostosis, hydrocephalus, Chiari I malformation, blepharophimosis, small low-set ears, hypoplastic philtrum, radioulnar synostosis, kidney malformation, and hypogenitalism. Their father presented mild brachydactyly. Conventional cytogenetic and array CGH screening did not show any chromosomal gains or losses. Furthermore, molecular genetic screening of genes involved in different craniosynostosis syndromes, namely FGFR1, FGFR2, FGFR3, TWIST, RECQL4, and POR genes failed to detect any mutations in genomic DNA. The unique range of clinical manifestations in these two patients and the negative findings of the molecular genetic screening suggest the hypothesis of a previously unrecognized syndrome.

KW - Blepharophimosis

KW - Chiari I malformation

KW - Craniosynostosis

KW - Hydrocephalus

KW - Hypogenitalism

KW - Radioulnar synostosis

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Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome

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Keywords

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