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

Eur J Med Genet. 2011 May-Jun;54(3):284-6. doi: 10.1016/j.ejmg.2010.12.002. Epub 2010 Dec 15.

Authors

F S Van Dijk¹, H F van Thuijl, A Wermeskerken, R R van Rijn, J M Cobben

Affiliation

¹ Department of Clinical Genetics, VU Medical Centre, Amsterdam, The Netherlands.

PMID: 21167328
DOI: 10.1016/j.ejmg.2010.12.002

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Abnormalities, Multiple / pathology*
Crying
Facies*
Humans
Imaging, Three-Dimensional
Incisor / abnormalities*
Infant
Karyotyping
Limb Deformities, Congenital / pathology*
Male
Nose / abnormalities*
Tomography, X-Ray Computed / methods