Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature

Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive end autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies. Clin Dysmorphol 18:67-77 (C) 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Unraveling an antique subduction process from metamorphic basement around Medellin city, Central Cordillera of Colombian Andes

In the surroundings of Caldas and El Retiro cities (Colombia) metamorphic rocks derived from basic and pelitic protoliths comprise the Caldas amphibole schist and the Ancon schist respectively. Subordinated metamorphosed granite bodies (La Miel gneiss) are associated to these units, and The El Retiro amphibolites, migmatites and granulites crops out eastwards of these units, separated by shear zones. The Caldas amphibole schist and the Ancon schist protoliths could have been formed in a distal marine reduced environment and amalgamated to the South American continent in an apparent Triassic subduction event. The El Retiro rocks are akin to a continental basement and possible include impure metasediments of continental margin, whose metamorphism originated granulite facies rocks and migmatites as a result of the anatexis of quartz-feldspathic rocks. The metamorphism was accompanied by intense deformation, which has juxtaposed both migmatites and granulite blocks. Afterward, heat and fluid circulation associated with the emplacement of minor igneous intrusions resulted in intense fluid-rock interaction, variations in the grain size of the minerals and, especially, intense retrograde metamorphic re-equilibrium. Thermobarometric estimations for the Caldas amphibole schist indicate metamorphism in the Barrovian amphibolite fades. The metamorphic path is counter-clockwise, but retrograde evolution could not be precisely defined. The pressures of the metamorphism in these rocks range from 6.3 to 13.5 kbar, with narrow temperature ranging from 550 to 630 degrees C. For the Ancon schist metapelites the P-T path is also counter-clockwise, with a temperature increase evidenced by the occurrence of sillimanite and the cooling by later kyanite. The progressive metamorphism event occurred at pressures of 7.6-7.2 kbar and temperatures of 645-635 degrees C for one sample and temperature between 500 and 600 degrees C under constant pressure of 6 kbar. The temperature estimated for these rocks varies between 400 and 555 degrees C at pressures of 5-6 kbar in the retrograde metamorphic path. The El Retiro rocks evidence strong decompression with narrow variation in temperature, showing pressure values between 8.7 and 2.7 kbar at temperatures of 740-633 degrees C. These metamorphic fragments of the basement in the Central Cordillera of the Colombian Andes could represent a close relationship with an antique subduction zone. (C) 2011 Elsevier Ltd. All rights reserved.