{"id":"https://openalex.org/W2013226741","doi":"https://doi.org/10.1111/j.1442-9071.1995.tb00144.x","title":"Blepharophimosis syndrome: association with colobomatous microphthalmos","display_name":"Blepharophimosis syndrome: association with colobomatous microphthalmos","publication_year":1995,"publication_date":"1995-05-01","ids":{"openalex":"https://openalex.org/W2013226741","doi":"https://doi.org/10.1111/j.1442-9071.1995.tb00144.x","mag":"2013226741","pmid":"https://pubmed.ncbi.nlm.nih.gov/7546691"},"language":"en","primary_location":{"id":"doi:10.1111/j.1442-9071.1995.tb00144.x","doi":"https://doi.org/10.1111/j.1442-9071.1995.tb00144.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1442-9071.1995.tb00144.x","pdf_url":null,"source":{"id":"https://openalex.org/S146322450","display_name":"Australian and New Zealand Journal of Ophthalmology","issn_l":"0814-9763","issn":["0814-9763","1440-1606"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Australian and New Zealand Journal of Ophthalmology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5044580828","display_name":"Lawrence R. Lee","orcid":"https://orcid.org/0000-0001-6307-0194","observed_orcids":["https://orcid.org/0000-0001-6307-0194"]},"institutions":[{"id":"https://openalex.org/I4210167058","display_name":"Children's Health Queensland Hospital and Health Service","ror":"https://ror.org/02t3p7e85","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1302211766","https://openalex.org/I2801244131","https://openalex.org/I4210167058"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Lawrence R. Lee","raw_affiliation_strings":["Oculoplastic Clinic, Royal Children's Hospital, Brisbane, Queensland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oculoplastic Clinic, Royal Children's Hospital, Brisbane, Queensland","institution_ids":["https://openalex.org/I4210167058"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5032497598","display_name":"Timothy J. Sullivan","orcid":"https://orcid.org/0000-0002-7380-4339","observed_orcids":["https://orcid.org/0000-0002-7380-4339","https://orcid.org/0000-0001-6465-3586"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Timothy J. Sullivan","raw_affiliation_strings":["Oculoplastic Clinic, Royal Children's Hospital, Brisbane, and Royal Brisbane Hospital, Herston, Queensland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oculoplastic Clinic, Royal Children's Hospital, Brisbane, and Royal Brisbane Hospital, Herston, Queensland","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.4598,"has_fulltext":false,"cited_by_count":16,"citation_normalized_percentile":{"value":0.64385645,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"23","issue":"2","first_page":"145","last_page":"147"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/blepharophimosis-syndrome","display_name":"blepharophimosis syndrome","score":0.9929999709129333},{"id":"https://openalex.org/keywords/optic-disc-coloboma","display_name":"optic disc coloboma","score":0.921999990940094},{"id":"https://openalex.org/keywords/retinochoroidal-coloboma","display_name":"retinochoroidal coloboma","score":0.9890000224113464},{"id":"https://openalex.org/keywords/iris-coloboma","display_name":"iris coloboma","score":0.9990000128746033},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9330000281333923},{"id":"https://openalex.org/keywords/ocular-malformations","display_name":"ocular malformations","score":0.5070000290870667},{"id":"https://openalex.org/keywords/congenital-eye-malformation","display_name":"congenital eye malformation","score":0.6069999933242798}],"concepts":[{"id":"https://openalex.org/C2777821979","wikidata":"https://www.wikidata.org/wiki/Q883850","display_name":"Blepharophimosis","level":3,"score":0.9818641543388367},{"id":"https://openalex.org/C2908844906","wikidata":"https://www.wikidata.org/wiki/Q1557239","display_name":"Microphthalmos","level":2,"score":0.9345148801803589},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6821048855781555},{"id":"https://openalex.org/C2776064365","wikidata":"https://www.wikidata.org/wiki/Q1462309","display_name":"Coloboma","level":2,"score":0.5784963369369507},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.4790809750556946},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.35098037123680115},{"id":"https://openalex.org/C2781194658","wikidata":"https://www.wikidata.org/wiki/Q622427","display_name":"Ptosis","level":2,"score":0.26095443964004517},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002829","descriptor_name":"Choroid","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D003103","descriptor_name":"Coloboma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003103","descriptor_name":"Coloboma","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005141","descriptor_name":"Eyelid Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005141","descriptor_name":"Eyelid Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007498","descriptor_name":"Iris","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008850","descriptor_name":"Microphthalmos","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008850","descriptor_name":"Microphthalmos","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009898","descriptor_name":"Optic Disk","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014785","descriptor_name":"Vision, Ocular","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/j.1442-9071.1995.tb00144.x","doi":"https://doi.org/10.1111/j.1442-9071.1995.tb00144.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1442-9071.1995.tb00144.x","pdf_url":null,"source":{"id":"https://openalex.org/S146322450","display_name":"Australian and New Zealand Journal of Ophthalmology","issn_l":"0814-9763","issn":["0814-9763","1440-1606"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Australian and New Zealand Journal of Ophthalmology","raw_type":"journal-article"},{"id":"pmid:7546691","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7546691","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Australian and New Zealand journal of ophthalmology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1976888646","https://openalex.org/W2074085574","https://openalex.org/W2084329024","https://openalex.org/W2091966440","https://openalex.org/W2169278010","https://openalex.org/W2228555380","https://openalex.org/W2289190687","https://openalex.org/W2325256127","https://openalex.org/W2412273278","https://openalex.org/W4234751362"],"related_works":["https://openalex.org/W7009877156","https://openalex.org/W7220626123","https://openalex.org/W1966064109","https://openalex.org/W1970921711","https://openalex.org/W2039856974","https://openalex.org/W2225688390","https://openalex.org/W2034648879","https://openalex.org/W2470159689","https://openalex.org/W2010486341","https://openalex.org/W7206330111"],"abstract_inverted_index":{"OBJECTIVE:":[0],"To":[1],"highlight":[2],"the":[3,42,54],"association":[4],"of":[5,16,61],"colobomatous":[6],"microphthalmos":[7,47],"with":[8,20],"blepharophimosis":[9,17,55],"syndrome.":[10,56],"RESULT:":[11],"We":[12],"present":[13],"a":[14,31],"case":[15,37],"syndrome":[18],"associated":[19],"bilateral":[21],"optic":[22],"disc,":[23],"retinochoroidal":[24],"and":[25,28],"iris":[26],"colobomas,":[27],"microphthalmos,":[29],"in":[30,35,53],"Caucasian":[32],"boy.":[33],"Inheritance":[34],"this":[36,62],"was":[38],"autosomal":[39],"dominant":[40],"from":[41],"maternal":[43],"side.":[44],"CONCLUSION:":[45],"Colobomatous":[46],"is":[48],"an":[49],"infrequent":[50],"ocular":[51],"abnormality":[52],"Ophthalmologists":[57],"should":[58],"be":[59],"aware":[60],"association.":[63]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
