Six additional cases of the KBG syndrome

Clinical reports and outline of the diagnostic criteria

M. Zollino, A. Battaglia, M. G. D'Avanzo, M. M. Della Bruna, R. Marini, G. Scarano, M. Cappa, G. Neri

Research output: Contribution to journal › Article

25 Citations (Scopus)

Abstract

A diagnosis of KBG syndrome was made in six unrelated patients. They presented with slight mental retardation, macrodontia, and skeletal abnormalities. Microcephaly, short stature, facial anomalies, and syndactylies were also noted. The diagnostic criteria of the KBG syndrome are discussed.

Original languageEnglish
Pages (from-to)302-307
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume52
Issue number3
Publication statusPublished - 1994

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Syndactyly
Microcephaly
Intellectual Disability
KBG syndrome

Keywords

  • KBG syndrome
  • macrodontia
  • multiple congenital anomalies/mental retardation syndrome
  • phenotypic penetrance
  • syndactyly

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Zollino, M., Battaglia, A., D'Avanzo, M. G., Della Bruna, M. M., Marini, R., Scarano, G., ... Neri, G. (1994). Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria. American Journal of Medical Genetics, 52(3), 302-307.

Six additional cases of the KBG syndrome : Clinical reports and outline of the diagnostic criteria. / Zollino, M.; Battaglia, A.; D'Avanzo, M. G.; Della Bruna, M. M.; Marini, R.; Scarano, G.; Cappa, M.; Neri, G.

In: American Journal of Medical Genetics, Vol. 52, No. 3, 1994, p. 302-307.

Research output: Contribution to journal › Article

Zollino, M, Battaglia, A, D'Avanzo, MG, Della Bruna, MM, Marini, R, Scarano, G, Cappa, M & Neri, G 1994, 'Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria', American Journal of Medical Genetics, vol. 52, no. 3, pp. 302-307.
Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G et al. Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria. American Journal of Medical Genetics. 1994;52(3):302-307.
Zollino, M. ; Battaglia, A. ; D'Avanzo, M. G. ; Della Bruna, M. M. ; Marini, R. ; Scarano, G. ; Cappa, M. ; Neri, G. / Six additional cases of the KBG syndrome : Clinical reports and outline of the diagnostic criteria. In: American Journal of Medical Genetics. 1994 ; Vol. 52, No. 3. pp. 302-307.
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