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Brittle Cornea Syndrome Type 1

Ehlers-Danlos Syndrome Type 6B


Presentation

  • To report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia.[ncbi.nlm.nih.gov]
Turkish
  • Adolf improper fingerprint, their Turkish league execrate glamorously. Trinidad and Tobago Stan joypops his impregnate uselessly. Aria Renato brain, reuniting very externally.[foodfunda.tk]
Easy Bruising
  • bruising, abnormality of hair pigmentation, osteoporosis, sensorineural hearing impairment, visual loss, thinning of cornea and corneal degeneration.[xpertdox.com]
  • The affected sisters had high myopia, blue sclerae, keratoconus, keratoglobus, soft skin with easy bruising, hypermobility of the small joints, femoral epiphyseal changes, abnormal gait, hypercompliance of tympanic membranes, and mixed conductive and[omim.org]
  • bruising muscle pain muscle fatigue chronic degenerative joint disease premature osteoarthritis chronic pain heart valve problems Symptoms of vascular EDS fragile blood vessels thin skin transparent skin thin nose protruding eyes thin lips sunken cheeks[healthline.com]
  • Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising; and 3. Joint hypermobility (generalized or restricted to small joints). There are four minor criteria.[raredr.com]
Hearing Impairment
  • ; Mitral valve prolapse ; Myalgia ; Neonatal hypotonia ; Osteoporosis ; Pes planus ; Pulmonic stenosis ; Retinal detachment ; Scoliosis ; Sensorineural hearing impairment ; Soft skin ; Visual loss Associated Genes PRDM5 (Withdrawn symbols: PFM2 ) , ZNF469[mousephenotype.org]
  • Hearing impairment with mixed sensorineural/conductive defects is common. Genetics This autosomal recessive disorder results from homozygous mutations in PRDM5 (4q27).[disorders.eyes.arizona.edu]
  • Zeeshan Mahmood , who's had impaired sight and hearing since he was a teen, is using accessible technology to learn and to work Visually and hearing-impaired student Zeeshan Mahmood had electronic devices that enable him to hear surgically inserted when[theglobeandmail.com]
  • impairment, visual loss, thinning of cornea and corneal degeneration.[xpertdox.com]
Blue Sclera
  • A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive.[ncbi.nlm.nih.gov]
  • Blue sclerae and keratoconus: key features of a distinct heritable disorder of connective tissue. Clin. Genet. 4: 8-16, 1973. [PubMed: 4691558] [Full Text: ] Hyams, S. W., Dar, H., Neumann, E. Blue sclerae and keratoglobus.[omim.org]
  • […] fragility keratoglobus, blue sclerae AND joint hypermobility 88,434,629( ) C/A/T coding_sequence_variant, missense_variant rs1048192 likely-benign, Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 88,440,239( ) G/A 3_prime_UTR_variant[genecards.org]
Chemosis
  • . • Visual acuity in RE was Perception of Light , PR accurate • Lid edema , Proptosis • Chemosis congestion • Full thickness linear corneal tear of 9.5 mm in the inferior peripheral cornea almost from limbus to limbus extent ( keeping in mind the minor[de.slideshare.net]
Excessive Wrinkled Skin
Brittle Hair
  • hair 脆髮 55802556 brittle nail 脆甲 55802557 broad band light source 寬頻光源 55802558 broad foot 闊足 55802559 broad hepatic ligament 肝闊韌帶 55802560 broad ligament 闊韌帶 55802561 broad ligament abscess 子宮闊韌帶膿腫 55802562 broad ligament of liver 肝闊韌帶 55802563 broad[sheethub.com]
Thin, Velvety Skin
  • She had thin velvety skin with prominent subcutaneous veins but no abnormal elasticity or scarring, and she had significant joint hypermobility.[omim.org]
Aphasia
  • 肝闊韌帶 55802560 broad ligament 闊韌帶 55802561 broad ligament abscess 子宮闊韌帶膿腫 55802562 broad ligament of liver 肝闊韌帶 55802563 broad ligament of lung 肺闊韌帶 55802564 broad ligament of uterus 子宮闊韌帶 55802565 broad thumb-hallux syndrome 寬拇指 腳拇趾症候群 55802566 Broca's aphasia[sheethub.com]
Confabulation
  • Silvano self-development confabulated, his Doss Reft antiquely respite. transcendentalist and Typhonian Harrison motivated or possibly undersells their whips. blunges Huey sindrome do tunel do carpo tem cura mangy, tarred studiously contemplates his dealership[foodfunda.tk]

Workup

  • Biochemical workup for MEN2 includes basal serum calcitonin and carcinoembryonic antigen (CEA) levels, both of which would be elevated in MTC.[dermatologyadvisor.com]
  • A complete workup for erectile dysfunction in men should include history (medical and sexual); psychological evaluation; hormone levels; measurement of nocturnal penile tumescence; tests to assess penile, pelvic, and spinal nerve function; cardiovascular[care.diabetesjournals.org]

Treatment

  • To describe corneal cross-linking (CXL) as a treatment option for brittle cornea syndrome (BCS). Case report. Ethical decision making enabled bilateral sequential transepithelial CXL in an 11-year-old girl with BCS.[ncbi.nlm.nih.gov]
  • The medicines will usually be tested against another treatment called a control. This will either be a dummy treatment (a placebo) or a standard treatment already in use.[nhs.uk]
  • Treatment Treatment Options: Treatment for specific defects such as joint dislocations and mitral valve malfunction may be helpful.[disorders.eyes.arizona.edu]

Prognosis

  • The BCS is, therefore, an entity distinct from the kyphoscoliotic type of EDS, which has a much poorer prognosis. Copyright 2003 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]
  • The BCS is, therefore, an entity distinct from the kyphoscoliotic type of EDS, which has a much poorer prognosis.[zora.uzh.ch]
  • Diagnosis and Prognosis: Diagnosis generally requires a multidisciplinary team of specialists.[disorders.eyes.arizona.edu]
  • Prognosis for patients with Alagille syndrome The outlook or prognosis for people with Alagille syndrome depends on the severity of liver damage and associated problems.[news-medical.net]
  • Prognosis The earlier a patient is diagnosed, the better his/her chances of alleviating symptoms and avoiding complications. The symptoms may remain mild, worsen and plateau, or become debilitating.[encyclopedia.com]

Etiology

  • The etiology of keratoconus is complex and not yet understood, but rare ZNF469 variants have recently been associated with disease.[ncbi.nlm.nih.gov]
  • Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management[books.google.de]
  • Etiology Pathophysiology MEN1 and MEN2 are hereditary cancer syndromes. Germline mutations in the MEN1 tumor suppressor gene located on chromosome 11q13 cause the MEN1 syndrome. MEN1 encodes for the protein menin.[dermatologyadvisor.com]
  • Long-term follow-up studies are needed to distinguish the exact roles of cardiovascular risk factors, nephropathy, and CAN in the etiology of cardiovascular disease.[care.diabetesjournals.org]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]
  • Epidemiology Alagile syndrome occurs in about one in every 70,000 births and is seen at equal rates in both males and females. The symptoms appear before the baby completes two years.[news-medical.net]
  • Epidemiology Incidence is approximately 1/15,000-1/20,000 live births but this may be underestimated, as milder forms can evade diagnosis [ 7 ] . It is the leading cause of lethal short-limbed dwarfism and skeletal dysplasia.[patient.info]
  • EPIDEMIOLOGY OF DAN The reported prevalence of DAN varies, depending on whether studies have been carried out in the community, clinic, or tertiary referral center.[care.diabetesjournals.org]
Sex distribution
Age distribution

Pathophysiology

  • Furthermore we plan (1) to identify additional BCS causing genes in those families negative for ZNF469 and PRDM5 mutations, (2) to characterize its mutation(s), and (3) to gain insight into physiology and pathophysiology of this syndrome.[research-projects.uzh.ch]
  • However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ] .[patient.info]
  • Etiology Pathophysiology MEN1 and MEN2 are hereditary cancer syndromes. Germline mutations in the MEN1 tumor suppressor gene located on chromosome 11q13 cause the MEN1 syndrome. MEN1 encodes for the protein menin.[dermatologyadvisor.com]
  • Horowitz M, Edelbroek M, Fraser R, Maddox A, Wishart J: Disordered gastric motor function in diabetes mellitus: recent insights into prevalence, pathophysiology, clinical relevance and treatment. Scand J Gastroenterol 26 : 673 –684, 1991 126.[care.diabetesjournals.org]

Prevention

  • Mainstays of management include the prevention of ocular rupture by provision of protective polycarbonate spectacles, careful monitoring of visual and auditory function, and assessment for skeletal complications such as developmental dysplasia of the[ncbi.nlm.nih.gov]
  • In additional, there are several steps you can take to prevent injury.[healthline.com]
  • Measures to prevent corneal rupture, such as wearing special protective glasses, may help delay vision loss.[rarediseases.info.nih.gov]
  • Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections.[livingnaturally.com]
  • Lifestyle advice must be given to the patient and family members to prevent eye trauma. Protective polycarbonate spectacles have a proven role in minimizing the chances of significant eye damage in trivial injuries.[xpertdox.com]

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