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Published in 2018 at "Orbit"
DOI: 10.1080/01676830.2018.1515961
Abstract: ABSTRACT Rubinstein–Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and hypertelorism. Lacrimal drainage anomalies are not uncommon in this syndrome. We present…
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Keywords:
lacrimal drainage;
rubinstein taybi;
anomalies rubinstein;
drainage anomalies ... See more keywords
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Published in 2020 at "Orbit"
DOI: 10.1080/01676830.2020.1767157
Abstract: ABSTRACT Proboscis lateralis is an exceptionally rare congenital anomaly characterized mostly by a nose-like tubular appendage, ipsilateral deformed nose and ocular anomalies, believed to be secondary to fusion defects involving the embryonic maxillary process. To…
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Keywords:
multiple lacrimal;
proboscis lateralis;
anomalies proboscis;
lacrimal drainage ... See more keywords
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Published in 2022 at "Orbit"
DOI: 10.1080/01676830.2022.2144385
Abstract: 3p deletion syndrome or deletion 3p25-pter syndrome is an exceptionally rare genetic disorder characterized by deletion of the distal segment of the short arm of chromosome 3. There are less than a hundred reported cases…
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Keywords:
drainage anomalies;
deletion syndrome;
anomalies deletion;
lacrimal drainage ... See more keywords