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

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

7 Citations (Scopus)

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.

Original language	English
Pages (from-to)	284-286
Number of pages	3
Journal	European journal of medical genetics
Volume	54
Issue number	3
DOIs	https://doi.org/10.1016/j.ejmg.2010.12.002
Publication status	Published - May 2011
Externally published	Yes

Keywords

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

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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.",

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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, no. 3, pp. 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, No. 3, 05.2011, p. 284-286.

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

TY - JOUR

T1 - Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects

T2 - A unique combination of features

AU - Van Dijk, F. S.

AU - van Thuijl, H. F.

AU - Wermeskerken, A.

AU - van Rijn, R. R.

AU - Cobben, J. M.

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AB - 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.

KW - Asymmetric crying facies

KW - CNPAS (congenital nasal pyriform aperture stenosis)

KW - Reduction defect

KW - SMMCI (solitary median maxillary central incisor)

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DO - 10.1016/j.ejmg.2010.12.002

M3 - Article

C2 - 21167328

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SN - 1769-7212

VL - 54

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JF - European journal of medical genetics

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