A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting
We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. This patient had many dysmorphic features consistent with a severe phenotype of ablepharon-macrostomia syndrome (AMS) including a fish-like appearance of the mouth, rudimentary ear...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2015-10-01
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| Series: | Case Reports in Ophthalmology |
| Subjects: | |
| Online Access: | http://www.karger.com/Article/FullText/441615 |
| _version_ | 1819145156693065728 |
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| author | Eric Feinstein Aisha S. Traish Vinay Aakalu Iris S. Kassem |
| author_facet | Eric Feinstein Aisha S. Traish Vinay Aakalu Iris S. Kassem |
| author_sort | Eric Feinstein |
| collection | DOAJ |
| description | We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. This patient had many dysmorphic features consistent with a severe phenotype of ablepharon-macrostomia syndrome (AMS) including a fish-like appearance of the mouth, rudimentary ears, absence of body hair, thin skin, absent nipples, abdominal distension, and genital abnormalities. Upon presentation, there was severe exposure keratopathy causing large bilateral sterile ulcers culminating in corneal melting of both eyes. An amniotic membrane graft was used to attempt to maintain the corneal surface integrity. However, because of the late presentation, the corneas could not be salvaged. Extensive surgical reconstruction of both eyelids and bilateral penetrating keratoplasty was ultimately performed successfully to protect the ocular surfaces while trying to maximize the visual potential. Early amniotic membrane grafting may be done at the bedside and may help preserve the ocular in patients with severe eyelid deformities until more definitive treatment is performed. |
| first_indexed | 2024-12-22T12:53:33Z |
| format | Article |
| id | doaj.art-d7eb231cf899445e95d038eb296a21c7 |
| institution | Directory Open Access Journal |
| issn | 1663-2699 |
| language | English |
| last_indexed | 2024-12-22T12:53:33Z |
| publishDate | 2015-10-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Ophthalmology |
| spelling | doaj.art-d7eb231cf899445e95d038eb296a21c72022-12-21T18:25:11ZengKarger PublishersCase Reports in Ophthalmology1663-26992015-10-016336637210.1159/000441615441615A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane GraftingEric FeinsteinAisha S. TraishVinay AakaluIris S. KassemWe describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. This patient had many dysmorphic features consistent with a severe phenotype of ablepharon-macrostomia syndrome (AMS) including a fish-like appearance of the mouth, rudimentary ears, absence of body hair, thin skin, absent nipples, abdominal distension, and genital abnormalities. Upon presentation, there was severe exposure keratopathy causing large bilateral sterile ulcers culminating in corneal melting of both eyes. An amniotic membrane graft was used to attempt to maintain the corneal surface integrity. However, because of the late presentation, the corneas could not be salvaged. Extensive surgical reconstruction of both eyelids and bilateral penetrating keratoplasty was ultimately performed successfully to protect the ocular surfaces while trying to maximize the visual potential. Early amniotic membrane grafting may be done at the bedside and may help preserve the ocular in patients with severe eyelid deformities until more definitive treatment is performed.http://www.karger.com/Article/FullText/441615Absent hairAbsent eyelidsAblepharonMacrostomiaCongenital eyelid anomalies |
| spellingShingle | Eric Feinstein Aisha S. Traish Vinay Aakalu Iris S. Kassem A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting Case Reports in Ophthalmology Absent hair Absent eyelids Ablepharon Macrostomia Congenital eyelid anomalies |
| title | A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting |
| title_full | A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting |
| title_fullStr | A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting |
| title_full_unstemmed | A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting |
| title_short | A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting |
| title_sort | case report of ablepharon macrostomia syndrome with amniotic membrane grafting |
| topic | Absent hair Absent eyelids Ablepharon Macrostomia Congenital eyelid anomalies |
| url | http://www.karger.com/Article/FullText/441615 |
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