Presentation
Abstract A 6-month-old leopard gecko with unilateral partially fused eyelids since birth was presented for examination. A diagnosis of congenital ankyloblepharon was made and surgical correction was performed successfully. [unboundmedicine.com]
[…] filiforme adnatum wherein single or multiple strands of epithelial tissue are present between the upper and lower eyelids). [tnoajosr.com]
[…] journal {Veterinary ophthalmology}, year {2015}, volume {18 Suppl 1}, pages { 71-3 } } Franck Rival Published in Veterinary ophthalmology 2015 DOI: 10.1111/vop.12195 A 6-month-old leopard gecko with unilateral partially fused eyelids since birth was presented [semanticscholar.org]
Article in English MEDLINE ID: mdl-25053155 A 6-month-old leopard gecko with unilateral partially fused eyelids since birth was presented for examination. [search.bvsalud.org]
Immune System
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Splenomegaly
Clitoral hypoplasia Breast aplasia Osteochondritis Dissecans Absent glenoid fossa Cyanosis Respiratory insufficiency due to muscle weakness Wide nasal bridge Carcinoma Immunodeficiency Pneumonia Thrombocytopenia Coma Rigidity Respiratory tract infection Splenomegaly [mendelian.co]
Entire Body System
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Virilization
The most common form, the simple virilizing form, is due to a 21-hydroxylase deficiency. [kmle.co.kr]
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Hodgkin Lymphoma
lymphoma Hypoplasia of the odontoid process High hypermetropia Macrocytic anemia Reduced tendon reflexes Mesomelia Basal cell carcinoma Femoral bowing Abnormality of the hip bone Short thorax Squamous cell carcinoma Portal hypertension Dysphagia Tibial [mendelian.co]
Gastrointestinal
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Recurrent Abdominal Pain
Browse recently published Learning/CME Learning/CME View all learning/CME CME Conservative Oxygen Therapy during Mechanical Ventilation in the ICU Case 8-2020: An 89-Year-Old Man with Recurrent Abdominal Pain and Bloody Stools Complications of Unsafe [nejm.org]
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Abdominal Pain
Browse recently published Learning/CME Learning/CME View all learning/CME CME Conservative Oxygen Therapy during Mechanical Ventilation in the ICU Case 8-2020: An 89-Year-Old Man with Recurrent Abdominal Pain and Bloody Stools Complications of Unsafe [nejm.org]
Liver, Gall & Pancreas
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Hepatomegaly
Respiratory insufficiency due to muscle weakness Wide nasal bridge Carcinoma Immunodeficiency Pneumonia Thrombocytopenia Coma Rigidity Respiratory tract infection Splenomegaly Autoimmunity Cognitive impairment Clinodactyly of the 5th finger Ophthalmoplegia Hepatomegaly [mendelian.co]
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Hepatosplenomegaly
A premature newborn male was clinically diagnosed as CRS with cataracts, congenital heart defects, microcephaly, hepatosplenomegaly, and thrombocytopenia. The infection was confirmed serologically and molecularly. [biomedsearch.com]
Fetus
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Hydrops Fetalis
Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care [books.google.com]
Skin
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Purpura
Haug Browse recently published Learning/CME Learning/CME View all learning/CME CME Case 3-2019: A 70-Year-Old Woman with Fever, Headache, and Progressive Encephalopathy Caplacizumab Treatment for Acquired Thrombotic Thrombocytopenic Purpura Randomized [nejm.org]
[…] autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy autoimmune polyglandular syndrome, type 1, see autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy autoimmune thrombocytopenia, see immune thrombocytopenia autoimmune thrombocytopenic purpura [herenciageneticayenfermedad.blogspot.com]
Workup
Serum
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Erythroblast
Type II is the most common of the 3 types of congenital dyserythropoietic anaemia; it is often referred to as hempas, based on the hereditary erythroblast multinuclearity with positive acidified serum test. (12 Dec 1998) anaemia, haemolytic, congenital [kmle.co.kr]
Ultrasound
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Enlargement of the Spleen
Symptoms include an infant with an enlarged liver and spleen, swelling, jaundice and anaemia. (27 Sep 1997) congenital antithrombin III deficiency Antithrombin III is a protein which stimulates the removal of blood clots in the bloodstream. [kmle.co.kr]
Treatment
Treatment is always surgical and the procedure to be performed is simple, even when palpebral reconstruction is required. Key words: ankyloblepharon, congenital ocular anomalies, palpebral anomalies. [medigraphic.com]
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]
This report concentrates on describing the clinical features of above disease, likely aetiological causes, and embryogenesis with classification, diagnostic, and, treatment modality, anesthesia problems and review of literature. [ijps.org]
Prognosis
Prognosis The results of ankyloblepharon surgery can be generally correlated with the extent of the ankyloblepharon. In congenital ankyloblepharon, visual prognosis is usually good if timely intervention is performed. [eyewiki.aao.org]
Simultaneous medial canthoplasty and blepharoptosis correction in select patients Prognosis With surgical correction, improved cosmesis Visual prognosis is guarded because of amblyopia development. [entokey.com]
In congenital anklyoblepharon, both visual prognosis and cosmetic appearance are usually very good. [tnoajosr.com]
[…] body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis [books.google.es]
Etiology
The exact etiology of this condition is unknown. [eyewiki.aao.org]
Etiology Autosomal dominant inheritance Associated with FOXL2 mutations Symptoms Present congenitally Severe ptosis may cause ametropic amblyopia with blurred vision. [entokey.com]
The etiology of this defect has not been identified yet. [sjh.umsha.ac.ir]
Epidemiology
Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]
Lower lip sinuses: Epidemiology, microforms and transverse sulci. Br J Plast Surg 1981;34:26-30. 7. Coccia CT, Bixler D. Cleft palate and congenital fistulas of the lower lip: Report of a familial occurrence. [ijdvl.com]
Poiares / Bairos, V. 2008 351 An Epidemiologic Study of Perianal Dermatitis Among Children in Egypt Mostafa, Wedad Z. / Arnaout, Heba H. / El‐Lawindi, Mona I. / El‐Abidin, Yasmeen M. [tib.eu]
Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod 2004;26:17-24. 4. Oberoi S, Vargervik K. Hypoplasia and hypodontia in Van der Woude syndrome. [contempclindent.org]
Epidemiology: XLHED has an estimated incidence of 1/10,000. It is a genetically inherited disease. [cancertherapyadvisor.com]
Pathophysiology
Pathophysiology Normal embryogenesis of equine eye results in a fully developed globe and adnexa, with the eyelids separated at birth. The epithelial connection between the lids breaks down normally in late pregnancy. [vetstream.com]
Pathophysiology Ectodermal dysplasia results from the abnormal morphogenesis of cutaneous and/or oral embryonal ectoderm (ie, hair, nails, teeth, eccrine glands). In some forms, mesodermal abnormalities are also present. [emedicine.medscape.com]
Pathophysiology Mutated keratin filaments aggregate, resulting in weakened filament structures and consequent cellular fragility. [dermatologyadvisor.com]
EEC syndrome is caused by point mutations in the DNA binding domain of p63 in 95% of cases Pathophysiology p63 is a transcription factor expressed as six isoforms. [clinicaladvisor.com]
Prevention
Early diagnosis and management of congenital ankyloblepharon prevent stimulus deprivation amblyopia, and the child should be screened for associated systemic abnormalities. [tnoajosr.com]
Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]
Edges of conjunctiva and eyelid margin are apposed with sutures to prevent readhesion of skin. Prognosis Excellent prognosis with treatment Prevent readhesion of skin Lopardo T, Loiacono N, Marinari B, et al. [entokey.com]
Preventive measures are directed to prevention of emergence only of the acquired ankiloblefaron. [medicine-for-you.com]
Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [medlineplus.gov]