Ankyloblepharon filiforme adnatum

  • 文章类型: Case Reports
    下睑甲(AFA)是一种罕见的先天性异常,由上下眼睑部分或完全粘连组成,这可能是一个孤立的发现,或与其他多系统异常相关。它的存在应该提醒新生儿学家需要进行详细的系统评估。我们介绍了一个二十天大的婴儿,他在2019年8月8日来到我们的设施,上下眼睑双侧粘连,用麦克弗森的镊子和瓦纳斯剪刀切除了它们,没有镇静或麻醉。及时分离眼睑对于防止刺激剥夺性弱视的发作很重要。
    Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly consisting of partial or complete adhesion of the upper and lower eyelids, and it can be an isolated finding, or associated with other multisystemic anomalies. Its presence should alert the neonatologist of the need for a detailed systemic evaluation. We present a twenty day old baby who presented to our facility on the 8th of August 2019, with bilateral adhesions of the upper and lower eyelids, and had them excised with the use of McPherson\'s forceps and Vannas scissors, with no sedation or anesthesia. Timely separation of the lids is important to prevent the onset of stimulus deprivation amblyopia.
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  • 文章类型: Case Reports
    Ankyloblepharon filiforme adnatum associated with Hay-Wells syndrome is a rare congenital disease caused by mutations in TP63 gene on the 3q27 chromosome. Here, we report a case of a new-born suffering from this syndrome in whom we detected a mutation c.1709T>C not previously included in the Ensemble database.
    A girl delivered in the 34th week of gestation from a physiological pregnancy was born with extensive burn-like skin defects, ankyloblepharon filiforme adnatum, palate cleft, onychodystrophy of all limbs and syndactyly of toes. Hay-Wells syndrome was suspected and confirmed by genetic examination. A heterozygous missense change c.1709T>C was found in the TP63 gene. This variant leads to a 570th codon exchange of leucine for proline (p.Leu570Pro) on the protein level. The eyelid separation was performed surgically, burns were treated locally and cosmetic surgeries correcting other defects are planned for the near future. The girl is still monitored by a multidisciplinary team.
    The mutation was not previously described in the literature or databases and should be included into these as probably pathogenic. A multidisciplinary approach is necessary to care for a patient with Hay-Wells syndrome, such care however can provide good results.
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  • 文章类型: Case Reports
    BACKGROUND: Congenital intraoral synechias are adhesions of intraoral structures involving soft tissue. These conditions and another anomaly called ankyloblepharon filiforme adnatum, which is partial fusion of the eyelid margins by bands of tissue, are rarely reported in the literature. The association of both anomalies of the craniomaxillofacial region is an even more unusual finding.
    OBJECTIVE: This article adds more information to the literature by reporting a case of a neonate with a rare association of bilateral synechia between the jaws, fusion of buccal mucosa to the ridges and between the tongue and palate, and ankyloblepharon filiforme adnatum in both eyes, without any other facial or systemic malformation.
    METHODS: A literature review of similar cases published in PUBMED/MEDLINE was conducted followed by a discussion and comparison to the new case.
    CONCLUSIONS: The rare association of these congenital defects, without the presence of syndromic symptoms, could be diagnosed and treated easily with good prognostic evolution.
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  • 文章类型: Case Reports
    Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly consisting of a partial or complete fusion of the eyelid margins. It is usually an isolated and benign malformation but its presence should alert the neonatologist because it can be rarely associated to other important multisystemic disorders. We report a case of a newborn presenting with isolated AFA at birth, treated in the first day of life.
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  • 文章类型: Case Reports
    Ankyloblepharon is defined by partial or complete adhesion of the ciliary edges of superior and inferior eyelids. It is usually a sporadic isolated malformation in which the upper and lower lids are joined by tags. Although it is an uncommon and benign condition, its presence should alert the clinician to the possibility of other important disorders. We report a case of a new born who had a sporadic ankyloblepharon, treated one day after birth.
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