{"id":"https://openalex.org/W7155491302","doi":"https://doi.org/10.1093/med/9780197809020.003.0017","title":"Atkin-Flaitz Syndrome","display_name":"Atkin-Flaitz Syndrome","publication_year":2026,"publication_date":"2026-04-01","ids":{"openalex":"https://openalex.org/W7155491302","doi":"https://doi.org/10.1093/med/9780197809020.003.0017"},"language":"en","primary_location":{"id":"doi:10.1093/med/9780197809020.003.0017","doi":"https://doi.org/10.1093/med/9780197809020.003.0017","is_oa":false,"landing_page_url":"https://doi.org/10.1093/med/9780197809020.003.0017","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atlas of X-Linked Intellectual Disability Syndromes","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W7155547984","display_name":"Atlas of X-Linked Intellectual Disability Syndromes"},"type":"book-chapter","indexed_in":["crossref"],"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/A5072815495","display_name":"Charles E. Schwartz","orcid":"https://orcid.org/0000-0002-7770-1943","observed_orcids":["https://orcid.org/0000-0002-7770-1943"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Charles E. Schwartz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050097716","display_name":"Roger E. Stevenson","orcid":"https://orcid.org/0000-0002-1806-6345","observed_orcids":["https://orcid.org/0000-0002-1806-6345"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Roger E. Stevenson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5100453630","display_name":"Tao Wang","orcid":"https://orcid.org/0000-0002-9697-4082","observed_orcids":["https://orcid.org/0000-0002-9697-4082"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tao Wang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.28939944,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"36","last_page":"37"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.5985999703407288,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.5985999703407288,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.2502000033855438,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.03849999979138374,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/x-linked-intellectual-disability","display_name":"X-linked intellectual disability","score":0.8579999804496765},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.9549999833106995},{"id":"https://openalex.org/keywords/macrocephaly","display_name":"macrocephaly","score":0.996999979019165},{"id":"https://openalex.org/keywords/coarse-facial-features","display_name":"coarse facial features","score":0.7250000238418579},{"id":"https://openalex.org/keywords/macroorchidism","display_name":"macroorchidism","score":0.847000002861023},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.9890000224113464},{"id":"https://openalex.org/keywords/female-carriers","display_name":"female carriers","score":0.7160000205039978},{"id":"https://openalex.org/keywords/facial-dysmorphism","display_name":"facial dysmorphism","score":0.6919999718666077},{"id":"https://openalex.org/keywords/hypertelorism","display_name":"hypertelorism","score":0.8529999852180481},{"id":"https://openalex.org/keywords/micrognathia","display_name":"micrognathia","score":0.7089999914169312}],"concepts":[{"id":"https://openalex.org/C2780446394","wikidata":"https://www.wikidata.org/wiki/Q41055","display_name":"Forehead","level":2,"score":0.7886999845504761},{"id":"https://openalex.org/C42558546","wikidata":"https://www.wikidata.org/wiki/Q7128693","display_name":"Palpebral fissure","level":2,"score":0.7512999773025513},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6545000076293945},{"id":"https://openalex.org/C2778311950","wikidata":"https://www.wikidata.org/wiki/Q7363","display_name":"Nose","level":2,"score":0.49540001153945923},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.45190000534057617},{"id":"https://openalex.org/C2780208632","wikidata":"https://www.wikidata.org/wiki/Q15173","display_name":"Upper lip","level":2,"score":0.3562000095844269},{"id":"https://openalex.org/C29694066","wikidata":"https://www.wikidata.org/wiki/Q118301","display_name":"Orthodontics","level":1,"score":0.34200000762939453},{"id":"https://openalex.org/C196644772","wikidata":"https://www.wikidata.org/wiki/Q3884964","display_name":"Orbit (dynamics)","level":2,"score":0.2578999996185303},{"id":"https://openalex.org/C2781194658","wikidata":"https://www.wikidata.org/wiki/Q622427","display_name":"Ptosis","level":2,"score":0.25690001249313354},{"id":"https://openalex.org/C2780905192","wikidata":"https://www.wikidata.org/wiki/Q2341604","display_name":"Facial muscles","level":2,"score":0.2361000031232834}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1093/med/9780197809020.003.0017","doi":"https://doi.org/10.1093/med/9780197809020.003.0017","is_oa":false,"landing_page_url":"https://doi.org/10.1093/med/9780197809020.003.0017","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Atlas of X-Linked Intellectual Disability Syndromes","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2069668197","https://openalex.org/W7155565184","https://openalex.org/W2410052138","https://openalex.org/W7155568856","https://openalex.org/W2341485576","https://openalex.org/W2039309833","https://openalex.org/W4237439355","https://openalex.org/W7095495079","https://openalex.org/W7155533193","https://openalex.org/W7155516611"],"abstract_inverted_index":{"Abstract":[0],"This":[1],"chapter":[2],"provides":[3],"pictures":[4],"and":[5,27,48,62,93,100],"clinical":[6],"details":[7],"of":[8],"Atkin-Flaitz":[9],"syndrome,":[10],"an":[11],"XLID":[12],"with":[13,23,45,85],"short":[14,21,99],"stature,":[15],"macrocephaly,":[16],"coarse":[17],"facial":[18,55],"features,":[19],"broad":[20,42,90],"hands":[22],"tapered":[24],"fingers,":[25],"macroorchidism,":[26],"seizures.":[28],"The":[29],"gene":[30],"has":[31],"not":[32],"been":[33],"identified.":[34],"Macrocephaly,":[35],"large":[36,83],"forehead,":[37],"prominent":[38,86],"supraorbital":[39,87],"ridges,":[40,88],"hypertelorism,":[41,89],"nasal":[43,91],"tip":[44],"anteverted":[46],"nostrils,":[47],"thick":[49,94],"lower":[50,95],"lip":[51],"give":[52],"the":[53],"distinctive":[54],"appearance.":[56],"Large":[57],"ears,":[58],"downslanted":[59],"palpebral":[60],"fissures":[61],"micrognathia":[63],"may":[64],"also":[65],"be":[66,103],"present.":[67],"Seizures":[68],"occur":[69],"in":[70],"a":[71],"minority.":[72],"Carrier":[73],"females":[74],"are":[75,98],"less":[76],"severely":[77],"affected,":[78],"having":[79],"mild":[80],"cognitive":[81],"impairment,":[82],"forehead":[84],"tip,":[92],"lip.":[96],"They":[97],"tend":[101],"to":[102],"obese.":[104]},"counts_by_year":[],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2026-04-25T00:00:00"}
