title: A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
abstract: In 1989, Tsukahara and colleagues described a single female with a provisionally unique pattern of malformation consisting of low intelligence, short stature, brachydactyly type A1, and characteristic facial features. We report on a second patient confirming Tsukahara syndrome as an established entity.
authors.affiliation: Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey. geutine@hacettepe.edu.tr
authors.forename: Gülen Eda
authors.initials: GE
authors.lastname: Utine
authors.forename: Jeroen
authors.initials: J
authors.lastname: Breckpot
authors.forename: Bernard
authors.initials: B
authors.lastname: Thienpont
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
authors.forename: Cemalettin
authors.initials: C
authors.lastname: Aksoy
authors.forename: Koray
authors.initials: K
authors.lastname: Boduroğlu
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006130:Growth Disorders / Q000150:complications*; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging; D034381:Hearing Loss / Q000150:complications*; D006615:Hip / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D008831:Microcephaly / Q000150:complications*; D009916:Orbital Diseases / Q000150:complications*; D011247:Pregnancy; D011859:Radiography; D012600:Scoliosis / Q000150:complications / Q000000981:diagnostic imaging; D013577:Syndrome