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. 2014 Oct 23;7:74. doi: 10.1186/s13039-014-0074-7

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© Schwaibold et al.; licensee BioMed Central Ltd. 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Representative photographs of the patient at 2 11/12 years of age. (a-b) The main facial features of the girl were: brachycephaly, prominent forehead, hypertelorism with mildly downslanting palpebral fissures, intermittent exotrophy, synophris, small nose with anteverted nostrils and deep-set nasal root, mild prognathism, deep-set posterior rotated ears, full cheeks and prominent philtrum. Note the mostly opened mouth with cupid bowed upper lip and full lower lip. (c) The frontal part of her plantar feet was deeply creased. (d) Her back was hairy.