Oculoectodermal syndrome: report of a new case with a broad clinical spectrum
Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a b...
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| Main Authors: | , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
22 September 2014
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| In: |
American journal of medical genetics
Year: 2014, Volume: 164, Issue: 11, Pages: 2947-2951 |
| ISSN: | 1552-4833 |
| DOI: | 10.1002/ajmg.a.36727 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1002/ajmg.a.36727 Verlag: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.36727 
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| Author Notes: | Deniz Aslan, Rustu Fikret Akata, Julia Schröder, Rudolf Happle, Ute Moog, and Oliver Bartsch |
| Summary: | Oculoectodermal syndrome (OMIM 600268) is rare and characterized by aplasia cutis congenita, epibulbar dermoids, and other abnormalities. We report herein on a newly recognized patient with oculoectodermal syndrome, which is the 19th reported patient with OES. The boy aged six years demonstrated a broad clinical spectrum of this condition, including aplasia cutis congenita, epibulbar dermoids, hyperkeratotic papule, mildly enlarged cisterna magna, and an enlarged fluid space in the quadrigeminal cistern, suggesting a cyst. He also manifested anomalies not reported associated with this disorder, including systematized epidermal nevus following Blaschko's lines, hypopigmented skin lesions, and mild digital anomaly. © 2014 Wiley Periodicals, Inc. |
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| Item Description: | Gesehen am 16.10.2020 |
| Physical Description: | Online Resource |
| ISSN: | 1552-4833 |
| DOI: | 10.1002/ajmg.a.36727 |