title: 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.
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.
authors.affiliation: Department of Clinical Genetics, VU Medical Centre, Amsterdam, The Netherlands.
authors.forename: F S
authors.initials: FS
authors.lastname: Van Dijk
authors.forename: H F
authors.initials: HF
authors.lastname: van Thuijl
authors.forename: A
authors.initials: A
authors.lastname: Wermeskerken
authors.forename: R R
authors.initials: RR
authors.lastname: van Rijn
authors.forename: J M
authors.initials: JM
authors.lastname: Cobben
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D003448:Crying; D019066:Facies; D006801:Humans; D021621:Imaging, Three-Dimensional; D007180:Incisor / Q000002:abnormalities*; D007223:Infant; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D009666:Nose / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed / Q000379:methods