Clinical variability in KBG syndrome: Report of three unrelated families

Gustavo Henrique Boff Maegawa, Julio Cesar Loguercio Leite, Têmis Maria Félix, Heraldo Luís Dias Da Silveira, Heloísa Emilia Da Silveira

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)150-154
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume131 A
Issue number2
DOIs
StatePublished - Dec 1 2004
Externally publishedYes

Fingerprint

Lip
Intellectual Disability
Cervical Rib
Dental Enamel Hypoplasia
X-Linked Genes
Tooth
Hand
KBG syndrome

Keywords

  • KBG syndrome
  • Macrodontia
  • Mental retardation
  • Skeletal anomalies

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Boff Maegawa, G. H., Loguercio Leite, J. C., Félix, T. M., Dias Da Silveira, H. L., & Da Silveira, H. E. (2004). Clinical variability in KBG syndrome: Report of three unrelated families. American Journal of Medical Genetics, 131 A(2), 150-154. https://doi.org/10.1002/ajmg.a.30293

Clinical variability in KBG syndrome : Report of three unrelated families. / Boff Maegawa, Gustavo Henrique; Loguercio Leite, Julio Cesar; Félix, Têmis Maria; Dias Da Silveira, Heraldo Luís; Da Silveira, Heloísa Emilia.

In: American Journal of Medical Genetics, Vol. 131 A, No. 2, 01.12.2004, p. 150-154.

Research output: Contribution to journalArticle

Boff Maegawa, GH, Loguercio Leite, JC, Félix, TM, Dias Da Silveira, HL & Da Silveira, HE 2004, 'Clinical variability in KBG syndrome: Report of three unrelated families', American Journal of Medical Genetics, vol. 131 A, no. 2, pp. 150-154. https://doi.org/10.1002/ajmg.a.30293
Boff Maegawa GH, Loguercio Leite JC, Félix TM, Dias Da Silveira HL, Da Silveira HE. Clinical variability in KBG syndrome: Report of three unrelated families. American Journal of Medical Genetics. 2004 Dec 1;131 A(2):150-154. https://doi.org/10.1002/ajmg.a.30293
Boff Maegawa, Gustavo Henrique ; Loguercio Leite, Julio Cesar ; Félix, Têmis Maria ; Dias Da Silveira, Heraldo Luís ; Da Silveira, Heloísa Emilia. / Clinical variability in KBG syndrome : Report of three unrelated families. In: American Journal of Medical Genetics. 2004 ; Vol. 131 A, No. 2. pp. 150-154.
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