• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.510-514
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• 2003

The Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by dental and ocular abnormalities. The essential ocular features include partial or complete bilateral hypoplasia of the iris stroma, abnormalities of the angle structures with congenital iris adhesions, and anterior displacement of Schwalbe's corpuscles. Common oral findings are hypodontia(especially in anterior maxillary segment), microdontia, misshaped teeth, delayed eruption of the teeth. Additionally, other systemic symptoms can be seen and early detection by the pedodontist through dental diagnosis should prevent visual impairment.

• Journal of Yeungnam Medical Science
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• v.7 no.1
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• pp.187-190
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• 1990

The authors experienced a case of secondary glaucoma combined with mesodermal dysgenesis of anterior segment, which disclosed extensive peripheral iridocorneal adhesion of congenital origin while his fellow eye revealed a sclerocornea. This case is extremely rare and entirely different from the previously reported Axenfeld's and Rieger's anomalies. We report this interestiong case with brief review of the literatures.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.