Clinical variability in KBG syndrome: report of three unrelated families

American Journal of Medical Genetics. Part a
Gustavo Henrique Boff MaegawaHeloísa Emília da Silveira

Abstract

The KBG syndrome is characterized by short stature, macrodontia, a specific combination of minor anomalies, developmental delay, and/or mental retardation. We reported on four patients from three unrelated families. The most frequent clinical findings were: atypical face, long/flat philtrum, thin upper lip, macrodontia, dental malposition, enamel hypoplasia, and cleft teeth. Skeletal anomalies such as cervical ribs and vertebral abnormalities were also noted. Hand anomalies were observed in three patients. Mental retardation and developmental delay were present in three of the four patients. There is wide clinical variability in the expression of this syndrome. The males are usually more severely affected then the females, suggesting possible X-linked inheritance in some cases.

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Citations

Jul 15, 2009·Journal of Autism and Developmental Disorders·Mina HahJoachim F Hallmayer
Dec 14, 2006·Orphanet Journal of Rare Diseases·Francesco BrancatiBruno Dallapiccola
Dec 30, 2014·Acta neurologica Belgica·Debopam Samanta, Erin Willis
Sep 1, 2009·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Harleen KumarAngus Cameron
Dec 21, 2017·Orphanet Journal of Rare Diseases·Dayna Morel SwolsMustafa Tekin
Jan 19, 2007·American Journal of Medical Genetics. Part a·K L SkjeiA M Slavotinek
Mar 4, 2020·American Journal of Medical Genetics. Part a·Maria GnazzoMaria Cristina Digilio
Dec 3, 2016·Cold Spring Harbor Molecular Case Studies·Robert KleynerGholson J Lyon
Jan 10, 2018·Frontiers in Behavioral Neuroscience·Linde C M van DongenJos I M Egger

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