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Axenfeld–Rieger syndrome (ARS) is a rare, autosomal dominant disorder with genetic and morphologic variability and characterized by ocular and nonocular clinical findings. Midface hypoplasia and maxillary hypodontia are classical presenting features of this syndrome. This case report describes a dental condition, immediate treatment required and a long-term treatment approach toward a patient 5-year-of-age with ARS, who presented with significant ocular and dental anomalies.

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Abstract: Introduction: Few reconstructive options are available for nasal defects measuring >2 cm. Staged procedures are often utilized for nasal defect reconstruction, but they are not feasible in some patients. Methods: Out of 92 patients operated upon for nasal skin lesions between 2009 and 2011, patients who received reconstructive surgery with a dorsal nasal flap, nasal skin lesions located in lower half of nose (≤5 mm from the alar rim), defect diameter ≥3 cm were included in this study. Results: Patients with nasal lesions larger than 3 cm who refused a staged procedure and were prone to compromised follow up underwent dorsal nasal flap reconstruction. Clear margins were obtained and no flap loss occurred. Minor complications occurred, such as flap dehiscence. Conclusion: The dorsal nasal flap can be effectively utilized for selected lesions as a surrogate for staged procedures that use various local flaps, such as the paramedian flap. [Copyright &y& Elsevier]

Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity. Several different gene mutations have been identified underlying these anomalies with the majority of ASD genes encoding transcriptional regulators. In this review, the role of the ASD genes, PITX2 and FOXC1, is considered in relation to the embryology of the anterior segment, the biochemical function of these proteins, and their role in development and disease aetiology. The emerging view is that these genes act in concert to specify a population of mesenchymal progenitor cells, mainly of neural crest origin, as they migrate anteriorly around the embryonic optic cup. These same genes then regulate mesenchymal cell differentiation to give rise to distinct anterior segment tissues. Development appears critically sensitive to gene dosage, and variation in the normal level of transcription factor activity causes a range of anterior segment anomalies. Interplay between PITX2 and FOXC1 in the development of different anterior segment tissues may partly explain the phenotypic variability and the genetic heterogeneity characteristic of ASD.Eye (2007) 21, 1310–1318. doi:10.1038/sj.eye.6702852 [ABSTRACT FROM AUTHOR]