Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features

F. S. Van Dijk; H. F. van Thuijl; A. Wermeskerken; R. R. van Rijn; J. M. Cobben

doi:10.1016/j.ejmg.2010.12.002

Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features

F. S. Van Dijk, H. F. van Thuijl, A. Wermeskerken, R. R. van Rijn, J. M. Cobben

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

5 Citaten (Scopus)

Samenvatting

We report a boy with asymmetric crying facies and bilateral absence of the 5th ray of the feet. In addition, craniofacial computed tomography showed a solitary median maxillary central incisor in combination with a narrow apertura piriformis. To our knowledge this intriguing combination of congenital abnormalities has not been described before.

Originele taal-2	Engels
Pagina's (van-tot)	284-286
Aantal pagina's	3
Tijdschrift	European Journal of Medical Genetics
Volume	54
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.1016/j.ejmg.2010.12.002
Status	Gepubliceerd - mei 2011
Extern gepubliceerd	Ja

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10.1016/j.ejmg.2010.12.002

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Van Dijk, F. S., van Thuijl, H. F., Wermeskerken, A., van Rijn, R. R., & Cobben, J. M. (2011). Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features. European Journal of Medical Genetics, 54(3), 284-286. https://doi.org/10.1016/j.ejmg.2010.12.002

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abstract = "We report a boy with asymmetric crying facies and bilateral absence of the 5th ray of the feet. In addition, craniofacial computed tomography showed a solitary median maxillary central incisor in combination with a narrow apertura piriformis. To our knowledge this intriguing combination of congenital abnormalities has not been described before.",

keywords = "Asymmetric crying facies, CNPAS (congenital nasal pyriform aperture stenosis), Reduction defect, SMMCI (solitary median maxillary central incisor)",

author = "{Van Dijk}, {F. S.} and {van Thuijl}, {H. F.} and A. Wermeskerken and {van Rijn}, {R. R.} and Cobben, {J. M.}",

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doi = "10.1016/j.ejmg.2010.12.002",

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Van Dijk, FS, van Thuijl, HF, Wermeskerken, A, van Rijn, RR & Cobben, JM 2011, 'Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features', European Journal of Medical Genetics, vol. 54, nr. 3, blz. 284-286. https://doi.org/10.1016/j.ejmg.2010.12.002

Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features. / Van Dijk, F. S.; van Thuijl, H. F.; Wermeskerken, A. et al.
In: European Journal of Medical Genetics, Vol. 54, Nr. 3, 05.2011, blz. 284-286.

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

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