Juberg–Hayward syndrome: Report of a new patient with severe phenotype and novel clinical features
dc.contributor.author | Hedera, Peter | en_US |
dc.contributor.author | Innis, Jeffrey W. | en_US |
dc.date.accessioned | 2006-04-19T13:44:54Z | |
dc.date.available | 2006-04-19T13:44:54Z | |
dc.date.issued | 2003-10-15 | en_US |
dc.identifier.citation | Hedera, Peter; Innis, Jeffrey W. (2003)."Juberg–Hayward syndrome: Report of a new patient with severe phenotype and novel clinical features." American Journal of Medical Genetics 122A(3): 257-260. <http://hdl.handle.net/2027.42/34668> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/34668 | |
dc.description.abstract | We report a patient with severe mental retardation (MR), microcephaly, Dandy–Walker malformation, bilateral lip/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, including Y-shaped metacarpals and urogenital abnormalities. High-resolution karyotype and subtelomeric fluorescence in situ hybridization were normal. We propose that his clinical picture is most consistent with Juberg–Hayward or orocraniodigital syndrome. Several clinical features present in our patient (unilateral distal displacement of elbow position, second-site radioulnar synostosis, bilateral Y-shaped metacarpal, lobular tongue, hypertrophic frenuli, Dandy–Walker malformation) have not previously been reported in this condition, thus expanding the phenotypic spectrum of this rare condition. The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes. © 2003 Wiley-Liss, Inc. | en_US |
dc.format.extent | 110188 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Juberg–Hayward syndrome: Report of a new patient with severe phenotype and novel clinical features | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan ; Department of Human Genetics, 4811 Med Sciences II, Box 0618, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-0618. | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/34668/1/20263_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.a.20263 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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