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889 Possible Causes for Microphthalmos

  • Hallermann-Streiff Syndrome

    The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos.[] All patients had a microcornea and microphthalmos. Three patients had a membranous cataract.[] Typical features of this syndrome include microphthalmos, proportionate dwarfism, dyscephaly with birdlike facies, dental abnormalities, and hypotrichosis.[]

  • Patau Syndrome

    Please log in to edit this article. Edit Synonym: Trisomy 13, Bartholin-Patau-Syndrome German : Trisomie 13, Pätau-Syndrom 1 Definition The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there[…][]

  • 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[] […] 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[]

  • Fraser Syndrome

    Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[] It was revealed also high-grade microphthalmos in the left ocular globe with persistent primary vitreous and retinal detachment distal.[] […] sternum [ more ] 0006714 Aplasia/Hypoplasia of the thumb Absent/small thumb Absent/underdeveloped thumb [ more ] 0009601 Autosomal recessive inheritance 0000007 Bilateral microphthalmos[]

  • Laurence Moon Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[] […] intellectual disabilities) 759.89 Marchesani (-Weill) (brachymorphism and ectopia lentis) 759.89 Menkes' 759.89 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos[]

  • Pierre Robin Syndrome

    Objective(s : Cleft lip/palate are common congenital anomalies, affecting approximately 2/1000 live births. Pierre Robin Sequence is a subgroup of the cleft palate population. Chromosomal abnormalities near the SOX9 gene disrupt the regulation of this gene and prevent the SOX9 protein from properly controlling the[…][]

  • Meckel Syndrome

    Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported.[] 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.[]

  • Anophthalmos

    However, hypoplasia was observed on the lateral orbital wall for severe microphthalmos.[] Abstract Congenital anophthalmos and microphthalmos are rare conditions which can have associated pathology in the second eye and/or systemic anomalies.[] AIMS: To study the management of the orbital cysts present in a group of patients with anophthalmos and microphthalmos.[]

  • Cross Syndrome

    A, Photograph of the eye in Patient 1 showing the microphthalmos and spastic ectro.pion. B, Ocular anomalies in Patient 1.[] [ok′yəlō′- sərē′brəl] Etymology: L, oculus, eye cerebrum, brain an autosomal-recessive syndrome marked by cutaneous hypopigmentation, microphthalmos, small opaque corneas,[] Later, in a population survey, SjSgren and Larsson Gfound 5 unrelated persons who had microphthalmos and spastic diplegia.[]

  • Microphthalmos

    The microphthalmos was seen in three forms: bilateral, severe or mild and severe microphthalmos of one eye with the fellow eye mildly affected.[] Posterior microphthalmos is a congenital anomaly of the posterior segment of the eye, caused by an abnormally thickened sclera.[] Therefore, the term simple microphthalmos is proposed to identify these clinical conditions.[]

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