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593 Possible Causes for Hirsutism, Microphthalmos

  • Anophthalmos

    However, hypoplasia was observed on the lateral orbital wall for severe microphthalmos.[ncbi.nlm.nih.gov] 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] AIMS: To study the management of the orbital cysts present in a group of patients with anophthalmos and microphthalmos.[ncbi.nlm.nih.gov]

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

    A three-month-old infant was referred with bilateral corneal opacities and microphthalmos.[ncbi.nlm.nih.gov] […] metatarsal posteriorly placed CHEST Breasts Widely spaced nipples GROWTH Weight Normal birth weight,Failure to thrive INHERITANCE Autosomal recessive SKIN, NAILS, HAIR Hair Hirsutism[datapunk.net] ., An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. Ophthalm.Paediatr.Genet. 12 (1991) 57–63.[link.springer.com]

  • Gorlin-Chaudhry-Moss Syndrome

    This complex polymalformative syndrome associates facial anomalies that involve eyes (microphthalmos, down-slanted fissures, coloboma of the eyelid, defect of lacrimal system[accessanesthesiology.mhmedical.com] […] phenotypes: Commonly - More than 50% cases Mandibular prognathia Not very common - Between 30% and 50% cases Wide anterior fontanel Commonly - More than 50% cases Generalized hirsutism[mendelian.co] […] 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]

  • Hallermann-Streiff Syndrome

    The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos.[ncbi.nlm.nih.gov] Focal Facial Dermal Dysplasia 3 Gapo Syndrome Gorlin-Chaudhry-Moss Syndrome Hallermann-Streiff Syndrome Hearing Loss, Sensorineural, With Enamel Hypoplasia and Nail Defects Hypertrichosis[nfed.org] All patients had a microcornea and microphthalmos. Three patients had a membranous cataract.[ncbi.nlm.nih.gov]

  • Hypertelorism

    He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata.[ncbi.nlm.nih.gov] Ocular: Crater-like holes in the disc (Paufique and Etienne6) , microcornea, microphthalmos (Friede7), blue sclera (Biodi8) , congenital cataract with keratoconus and macular[healio.com]

  • Cornelia De Lange 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] There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism.[ncbi.nlm.nih.gov] Cornelia de Lange syndrome is a genetic condition characterized by a very distinctive facial appearance, hirsutism, limb anomalies, growth retardation and developmental delay[ncbi.nlm.nih.gov]

  • Achard Thiers Syndrome

    […] chorioretinopathy 1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Cervical Spine Fusion Anomalies Microcephaly Deafness Syndrome Microcephaly Microphthalmos[rgd.mcw.edu] Clinical features Achard–Thiers syndrome affects mostly postmenopausal women and comprises diabetes mellitus , deep voice, hirsutism or hypertrichosis , clitoral hypertrophy[ipfs.io] Clinical features Achard-Thiers syndrome affects mostly postmenopausal women and comprises diabetes mellitus, deep voice, hirsutism or hypertrichosis, clitoral hypertrophy[the-medical-dictionary.com]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    Muthugaduru DJ, Sahu C, Ali MJ, Dalal A, Jalali S. (2013) Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography[cdfd.org.in] Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy.[malacards.org] Coarse face and body hirsutism are additional features.[ncbi.nlm.nih.gov]

  • Rubinstein-Taybi 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] A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad[ncbi.nlm.nih.gov] Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes,[ncbi.nlm.nih.gov]

  • Microphthalmia Type Lenz

    Microphthalmos. Int Ophthalmol Clin. 1984;24(1):87- 107. 3. Weiss AH, Koussef BG, Ross EA, Longbotton J. Complex microphthalmos.[sboportal.org.br] Treatment of manifestations: For clinical anophthalmos or extreme microphthalmos: regular evaluation by an ocularist for placement of serial enlarging orbital expanders, physical[ncbi.nlm.nih.gov] Genetic analysis of microphthalmos. Ophthalmol Pediatr Genet. 1982;1:139-49. 8. Mann I. The developmental abnormalities of the eye.[sboportal.org.br]

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