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486 Possible Causes for Dysmorphic Face, Microphthalmos

  • 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] In some of the patients, facial dysmorphism was also reported: the forehead was high and prominent with a wide fontanel, the mid-face was flat, and the nose and filtrum short[doi.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]

  • 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[…][flexikon.doccheck.com]

  • Pierre Robin Syndrome

    Because growth is altered in the mandible but may not be altered in other parts of the face, a dysmorphism of the features may progress and become more prominent with age[emedicine.medscape.com]

  • Smith Lemli Opitz Syndrome

    Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported.[disorders.eyes.arizona.edu] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com]

  • Mohr Syndrome

    […] orbit 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes cryptophthalmos NOS ( Q11.2 ) cryptophthalmos syndrome ( Q87.0 ) ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com] Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip.[symptoma.com] A clinical diagnosis of OFD1 was made, based on the characteristic dysmorphic features of the mouth, face and limbs.[jofs.in]

  • Pallister W Syndrome

    Aughton syndrome 0 *Abnormalities, Multiple *Cleft Palate *Dextrocardia *Intellectual Disability *Microphthalmos.[reference.md] Dysmorphic features included a long face and nose with protruding nasal tip and short philtrum.[findzebra.com] […] had strabismus but no nystagmus or visual problems and otherwise normal eyes.8 The most severe ocular abnormality to have been described in Pallister-Killian syndrome is microphthalmos[healio.com]

  • Russell-Silver Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] […] and further dysmorphisms.[ncbi.nlm.nih.gov] The photographs show how development of a rounder face in females and jaw growth in males lessens the dysmorphic features with age.[jmg.bmj.com]

  • Congenital Exophthalmos

    […] fat and globe volume) orbital fat atrophy (this may be involutional (age-related), post-traumatic, post-radiation or severe wasting diseases) loss of globe volume (seen in microphthalmos[mrcophth.com]

  • Saethre-Chotzen Syndrome

    […] orbit 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes cryptophthalmos NOS ( Q11.2 ) cryptophthalmos syndrome ( Q87.0 ) ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com] Crouzon craniofacial dysostosis (OMIM 123500) involves only the face and skull.[rrnursingschool.biz] Q87.0 Acrocephalosyndactyly Q87.0 Aglossia-adactylia syndrome Q87.0 Apert's syndrome Q87.0 Carpenter's syndrome Q87.0 Cryptophthalmos Q11.2 ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com]

  • Fraser Syndrome

    Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[ncbi.nlm.nih.gov] , orofacial clefting, mental retardation and musculoskeletal anomalies. 2 Prenatal diagnosis of bilateral anophthalmia by 3D “reverse face” view ultrasound and magnetic resonance[doi.org] It was revealed also high-grade microphthalmos in the left ocular globe with persistent primary vitreous and retinal detachment distal.[ijponline.biomedcentral.com]

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