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Richard C. Allen, Alina V. Dumitrescu; Autosomal Dominant Inherited Microtia and Lacrimal-duct Anomalies. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1058.
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To present a family with a particular facial phenotype including bilateral microtia and lacrimal duct anomalies. Microtia is a congenital anomaly, characterized by a small, abnormally shaped auricle (pinna). It is usually accompanied by a narrow, blocked or absent ear canal. Since the development of the outer and middle ears are independent from that of the inner ear, the latter can be normally shaped and have normal functions. Microtia can occur as the only clinical abnormality or as part of a syndrome. The reports of exclusive association with lacrimal duct anomalies are rare.
Case report of phenotypic characterization of a family with an autosomal dominant microtia and lacrimal duct anomalies.
An infant presenting with bilateral microtia, stenosis of lower lacrimal canaliculus and upper lacrimal canaliculus dysgenesis was found to have a family history with two previous generations having similar features (father and paternal grandfather). On examination the upper lacrimal puncta and upper lacrimal canaliculus were absent. The lower puncta and canaliculus were present, but narrow. Patient’s visual acuity was normal for her age. She had full motility and was orthophoric. The rest of the ocular exam was normal for age. The management of the case included monocanalicular stent implantation in both lower canalicular systems. The ENT evaluation showed normal hearing and ear reconstruction was planned. All affected members of this family have normal hearing and no additional ocular, facial, vertebral, or renal abnormalities.
In the clinical assessment of a patient with microtia, associated anomalies are important for attributing the microtia to a known syndrome. The most common syndromes associated with microtia are oculo-auriculo-vertebral spectrum, Treacher Collins syndrome and the craniaofacial microsomia spectrum of malformations. We present a family, with 3 affected members, with autosomal dominant inheritance of microtia and lacrimal duct anomalies. None of the affected members has hearing loss (confirmed with audiograms) or other features that were described in the literature as being associated with microtia.
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