Presentation
We present a case of bilateral, complete, isolated cryptophthalmos, who has undergone stage 1 of reconstructive surgery. [scipers.com]
There is no tarsus or other adnexal structures present in this area b. [p2.aao.org]
Editors Abstract of papers presented during the 54th National Conference of The Anatomical Society of India, 2006 held at Amrita Medical College, Kochi, Kerala (151 - 199) Editors Abstract of papers presented during the 54th National Conference of The [indmedica.com]
Initially presented in part a t the David W. [docslide.net]
Per abdomen she was 28 wks cephalic presentation foetal heart sounds were present with good uterine activity of 2-3/10/30. On per vaginal examination she was0 fully dilated fully effaced vertex presentation and membranes absent. [bhj.org.in]
Entire Body System
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Physician
Quickly reference information with help from a convenient outline format, ideal for today’s busy physician. [books.google.com]
Cornea Laser and Lasik MD Mounir Bashour, MD, PhD, CM, FRCSC, FACS is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American College of International Physicians [emedicine.medscape.com]
It becomes very important therefore for the physician to be aware of the clinical manifestations. [jpgmonline.com]
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Inflammation
His main clinical and laboratory interest is intra-ocular inflammation (uveitis) and he has published over 150 papers on this subject. He is also an author of three ophthalmology textbooks and has contributed chapters to others. [books.google.com]
In the case of acquired distichiasis chronic inflammation leads to metaplasia, which results in lash growth from the Meibomian gland orifices. [entokey.com]
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Anemia
New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference [books.google.com]
Genes in which mutations can be occasionally associated with anophthalmia/microphthalmia are: PQBP1, some Fanconi anemia genes, Joubert syndrome and Meckel syndrome genes, PORCN, RIPK4, SALL4, DPYD, KIF11, SMAD4, FOXL2, GLI3, OCLN, MAF, CRYBB2, CRYGD, [bredagenetics.com]
Fetus
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Hydrops Fetalis
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Workup
X-Ray
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Mediastinal Shift
Serial fetal ultrasound examinations at 17–23 weeks' gestation showed hyperechoic and enlarged lungs, mediastinal shift, flattened diaphragm, polyhydramnios and apparently fluid-filled esophagus, find... more Abstract Objective The purpose of this study [scinapse.io]
Treatment
Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]
Surgical reconstruction is the modality of treatment available. We present a case of bilateral, complete, isolated cryptophthalmos, who has undergone stage 1 of reconstructive surgery. [scipers.com]
Describe patient management in terms of treatment and follow-up A. Natural history, prognosis 1. Euryblepharon: many cases mild and do not need treatment. If severe and ectropion or exposure present, lubrication and repair is recommended 2. [p2.aao.org]
Treatment Treatment Options: Attempts have been made to surgically create a lid fissure but the lack of conjunctival cul de sacs and fusion of the lids to the cornea in many cases can lead to irreparable complications. [disorders.eyes.arizona.edu]
Management Regardless of etiology, treatment is pursued based on the extent that the eyelashes come into contact with the ocular surface. If the lash does not touch the cornea or conjunctiva, no treatment is necessary. [entokey.com]
Prognosis
Treatment and prognosis The overall prognosis can be extremely variable dependent on the presence of other associated anomalies. [radiopaedia.org]
Ascites before 24 weeks of gestation or combined with fetal hydrops indicates poor prognosis (respectively, 78.6% vs 45% mortality ... more Fraser syndrome (cryptophthalmos–syndactyly syndrome) is an autosomal recessive multiple malformation syndrome [scinapse.io]
Course, Complications and Prognosis If separation of the eyelids is achieved in a timely manner, visual prognosis is excellent. Cosmetic appearance of the eyelids after separation is also usually very good. [entokey.com]
Also, cardiac malformations, as seen in our case, carry grave prognosis. Prenatal diagnosis includes a combination of ultrasound and fetoscopy(9), though prevention by genetic counseling would be the best approach. [indianpediatrics.net]
Prognosis of such babies are poor and if they survive no clear prognosis regarding degree of mental retardation can be given. [bhj.org.in]
Etiology
It has a very low prevalence and its etiology is heterogeneous. Complex congenital cardiac malformations are also rare. [medwave.cl]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Describe the etiology of this disease 1. A group of distinct conditions/malformations present at birth a. [p2.aao.org]
Ankyloblepharon Epidemiology Isolated ankyloblepharon and ankyloblepharon filiforme adnatum (AFA) are of unknown etiology and occur sporadically. [entokey.com]
Awareness of orbital, ocular and adnexal development and the migratory pattern of neural crest cells is useful for understanding the etiology of congenital orbital, eyelid and lacrimal anomalies. [reviewofophthalmology.com]
Epidemiology
Distichiasis Epidemiology Distichiasis may be either congenital or acquired. [entokey.com]
Epidemiological studies have predicted both heritable and environmental factors in causing anophthalmia and microphthalmia. [ojrd.biomedcentral.com]
Define the relevant aspects of epidemiology of this disease 1. These various congenital abnormalities vary in prevalence and are typically isolated events; a few can occur as part of a genetic syndrome like blepharophimosis C. [p2.aao.org]
Fraser Syndrome: Epidemiological Study in a European Population. American Journal of Medical Genetics Part A, Vol. 161, Issue. 5, p. 1012. [cambridge.org]
3 - Coloboma with complete cryptophthalmos Grade 4 - Classic cryptophthalmos (absence of all eyelid structures and complete coverage of eye by skin) Grade 5 - Severe cryptophthalmos (with severe deformity of the nose and ectropion of the upper lip) Epidemiology [emedicine.medscape.com]
Pathophysiology
Pathophysiology An eyelid coloboma may occur either congenitally or as a result of trauma (eg, accidental, surgical). [emedicine.medscape.com]
Pathophysiology The eyelashes are a dermal appendage and differentiate in association with the glands of Zeis. [entokey.com]
Prevention
List the complications of treatment, their prevention and management A. Complications 1. Scarring, lid retraction, lagophthalmos, lid distortion, amblyopia, tearing B. Prevention 1. [p2.aao.org]
Prevention by genetic counseling would be the best approach, the recurrence rate among siblings being 25%. References [Figure 1], [Figure 2], [Figure 3], [Figure 4] [mjmsr.net]
Prenatal diagnosis includes a combination of ultrasound and fetoscopy(9), though prevention by genetic counseling would be the best approach. Acknowledgements The authors acknowledge and thank our Dean, Dr. S.A. [indianpediatrics.net]
Except genetic counselling there is no known method of prevention. Prognosis of such babies are poor and if they survive no clear prognosis regarding degree of mental retardation can be given. [bhj.org.in]
The goal is to restore cosmesis and prevent further ocular surface insult. The choice of surgery depends on the severity of the condition, age of the patient and surgeon's preference. [ijo.in]