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2,835 Possible Causes for Epidermolysis Bullosa, Exophthalmos, Syndactyly Does Not Occur

  • Apert Syndrome

    We report this case of Apert syndrome with exophthalmos, exotropia, and IOOA.[ncbi.nlm.nih.gov] Unlike Apert syndrome, however, PS does not generally cause syndactyly of the hands.[forgottendiseases.org] bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome )[en.wikipedia.org]

  • Saethre-Chotzen Syndrome

    Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.[ojrd.biomedcentral.com] Unlike SCS syndrome, however, PS does not generally cause syndactyly of the hands. This clinical feature can help distinguish the two conditions (6, 7).[forgottendiseases.org] bullosa:栄養障害性表皮水疱症 Junctional epidermolysis bullosa:接合部型表皮水疱症 Juvenile hyaline fibromatosis:若年性ヒアリン線維腫症 Spinal muscular atrophy with respiratory distress 1:脊髄性筋萎縮症1 呼吸困難[mondomedi.com]

  • Herlitz Disease

    What is Herlitz Junctional Epidermolysis Bullosa, LAMB3-related?[counsyl.com] Martin Carter Springer Science & Business Media , ٠٦‏/١٢‏/٢٠١٢ - 302 من الصفحات Because skin blisters are the initial manifestation of epidermolysis bullosa (EB), patients[books.google.com] These findings supported a diagnosis of junctional epidermolysis bullosa. The patient was treated with topical and systemic antibiotics.[ncbi.nlm.nih.gov]

    Missing: Exophthalmos
  • Raine Syndrome

    […] a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos[ncbi.nlm.nih.gov] bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal[en.wikipedia.org] Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.[doi.org]

    Missing: Syndactyly Does Not Occur
  • Cenani Syndactylism

    Hypothyroidy - Laryngomalacia - Micrognathia / retrognathia / micrognathism / retrognathism - Nystagmus - Oligodactyly / ectrodactyly of toes - Prominent / bat ears - Proptosis / exophthalmos[csbg.cnb.csic.es] In some fetuses, this process does not occur completely between all fingers or toes and some residual webbing remains.[en.academic.ru] bullosa with pyloric atresia EDAR ( EDAR Hypohidrotic ectodermal dysplasia ) · PTCH1 ( Nevoid basal cell carcinoma syndrome ) · BMPR1A ( BMPR1A Juvenile polyposis syndrome[dictionary.sensagent.com]

  • Paranasal Sinus Cancer

    Sphenoid and posterior ethmoid mucoceles are less frequent and may present with orbital involvement resulting in decreased vision, exophthalmos, diplopia or with the superior[skullbaseinstitute.com] Bullosa Erythromelalgia Fanconi Anemia Female Genital Mutilation Giant Cell Arteritis Granulomatosis with Polyangiitis (GPA) Heart Defects Heart Disease Heart Disorders Hemolytic[personalizedcause.com] […] of a small cases with minimal epiphora , keratitis , complications withportion of the periorbital diplopia , pain , pre-operative R.T. areperiorbita & involvement without exophthalmos[slideshare.net]

    Missing: Syndactyly Does Not Occur
  • Robinow Syndrome

    His eyes were prominent with wide and down-slanting palpebral fissures giving an appearance of pseudo-exophthalmos due to lower eye lid deficiency.[contempclindent.org] Partial cutaneous syndactyly occurs in the hands and feet, but does not produce a consistent pattern.[jmg.bmjjournals.com] bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome )[en.wikipedia.org]

  • Carotid Cavernous Sinus Fistula

    An unusual case of carotid artery-cavernous sinus fistula with pulseless exophthalmos is presented in a two and one-half year old child.[ncbi.nlm.nih.gov] *epidermolysis bullosa[L] (略 EB) 【表皮剥離】*epidermolysis 【疲労】*fatigue 【疲労骨折】*fatigue fracture *stress fracture 【貧血】*anemia *a) anemic 【貧血性多発性神経炎】*anemic polyneuritis 【貧毛症】*hypotrichosis[medo.jp] A case of spontaneous carotid cavernous sinus fistula in a young adult male who presented with pulsating exophthalmos and secondary glaucoma is presented.[ncbi.nlm.nih.gov]

    Missing: Syndactyly Does Not Occur
  • Keratitis Bullosa

    Eyelid defects (colobomas, etc.) may cause exposure keratitis. 58 Exophthalmos from orbit disease or craniofacial abnormalities (see Chapter 28 ) can result in poor lid closure[entokey.com] bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.[eurekamag.com] The major treatment modality was use of ocular lubricants. epidermolysis bullosa Statistics from Altmetric.com epidermolysis bullosa Epidermolysis bullosa (EB) is a term for[bjo.bmj.com]

    Missing: Syndactyly Does Not Occur
  • Jackson Weiss Syndrome

    He presented with a cranial deformity, maxillary hypoplasia and exophthalmos.[scialert.net] Unlike Apert syndrome, however, PS does not generally cause syndactyly of the hands.[forgottendiseases.org] bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome )[en.wikipedia.org]

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