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249 Possible Causes for Microphthalmos, Occipital Encephalocele

  • Meckel Syndrome

    Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported.[disorders.eyes.arizona.edu] A one-day-old girl was admitted to our clinic with occipital encephalocele, polydactyly, ulnar deviation of left hand and failure to thrive.[ncbi.nlm.nih.gov] M Warburg, Classification of microphthalmos and coloboma., Journal of Medical Genetics, 10.1136/jmg.30.8.664, 30, 8, (664-669), (1993). H.M. Ramadani and H.A.[doi.org]

  • Congenital Muscular Dystrophy

    […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] […] detachment have been reported in a high number of patients accompanied or not by other ophthalmological alterations such as abnormal eye movements, strabismus, myopia and microphthalmos[doi.org] Occipital encephalocele and Dandy Walker cyst may be present. The eye anomalies involve both anterior and posterior chambers with retinal detachment and blindness.[doi.org]

  • Cranial Meningocele

    Research of Meningocele - Cranial has been linked to Meningocele, Congenital Cerebral Hernia, Hydrocephalus, Microphthalmos, Cleft Palate.[novusbio.com] Sagittal ultrasonogram through the fetal skull shows a small occipital encephalocele.[emedicine.medscape.com] Individuals with frontoethmoidal encephalocele sometimes have additional anomalies, including microcephaly (24%), microphthalmos (16%), and hydrocephalus (12 %).[rrnursingschool.biz]

  • Microphthalmos

    The microphthalmos was seen in three forms: bilateral, severe or mild and severe microphthalmos of one eye with the fellow eye mildly affected.[ncbi.nlm.nih.gov] Autopsy of a one-day-old full-term female revealed multiple congenital anomalies which included occipital encephalocele, cleft palate, hips which could not be abducted, long[ncbi.nlm.nih.gov] Additional brain anomalies such as hypoplasia/agenesis of the corpus callosum, occipital encephalocele, and Dandy-Walker malformation have been described.[ojoonline.org]

  • Encephalocele

    Such a condition may be associated with cleft lip and palate, microphthalmos, bifid nose and optic nerve coloboma.[scielo.br] This is the first case report of the association of an occipital encephalocele with a rare vascular tumor, i.e. papillary intralymphatic angioendothelioma.[ncbi.nlm.nih.gov] Such a condition may be associated with cleft lip and palate, microphthalmos, bifid nose and optic nerve coloboma.Considering the presence of a nasal mass, glioma, dermoid[rb.org.br]

  • Anophthalmos

    However, hypoplasia was observed on the lateral orbital wall for severe microphthalmos.[ncbi.nlm.nih.gov] Cataract Cleft upper lip Intrauterine growth retardation Anencephaly Anophthalmia Occipital encephalocele Microcephaly Intellectual disability Bile duct proliferation Bowing[mendelian.co] Abstract Congenital anophthalmos and microphthalmos are rare conditions which can have associated pathology in the second eye and/or systemic anomalies.[ncbi.nlm.nih.gov]

  • Basal Encephalocele

    Microphthalmos, right eye nystagmus, very thin upper lip, gothic palate. There was no goiter or fat accumulation in the abdomen. Tanner 2 pubertal stage.[elsevier.es] Sagittal ultrasonogram through the fetal skull shows a small occipital encephalocele.[emedicine.medscape.com] Such a condition may be associated with cleft lip and palate, microphthalmos, bifid nose and optic nerve coloboma.Considering the presence of a nasal mass, glioma, dermoid[rb.org.br]

  • Microcornea

    PURPOSE: To report the results of secondary posterior chamber intraocular lens (PC-IOL) implantation in pediatric cataract eyes with microcornea and/or microphthalmos.[ncbi.nlm.nih.gov] encephalocele Abnormality of visual evoked potentials Malar flattening Cardiomyopathy Sparse medial eyebrow Facial hypertrichosis Microphakia Posterior uveitis Posterior[mendelian.co] RESULTS: Ninety-nine children with coloboma, microcornea or microphthalmos had functional vision. Eight unilateral cases were excluded.[ncbi.nlm.nih.gov]

  • Knobloch Syndrome Type 1

    Individuals with frontoethmoidal encephalocele sometimes have additional anomalies, including microcephaly (24%), microphthalmos (16%), and hydrocephalus (12 %).[rrnursingschool.biz] Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by ocular abnormalities (myopia and retinal detachment) and occipital encephalocele.[ncbi.nlm.nih.gov] […] chorioretinopathy 1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Cervical Spine Fusion Anomalies Microcephaly Deafness Syndrome Microcephaly Microphthalmos[rgd.mcw.edu]

  • Nasal Encephalocele

    Such a condition may be associated with cleft lip and palate, microphthalmos, bifid nose and optic nerve coloboma.Considering the presence of a nasal mass, glioma, dermoid[rb.org.br] A baby with a large occipital encephalocele.[medical-dictionary.thefreedictionary.com] . — [A] Large occipital encephalocele. [B] CT of the brain showing brain tissue protruding through an occipital bone opening.[pediatricneuro.com]

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