KBG Syndrome: Report of Twins, Neurological Characteristics, and Delineation of Diagnostic Criteria

KBG syndrome is a multiple congenital anomaly (MCA) syndrome comprising developmental delay, postnatal short stature, and delayed bone age. Many physical anomalies involving the face, hands, and costovertebral axis have been described in this syndrome. We present twin males with KBG syndrome and a review of 50 published case reports, with particular emphasis on the neurological aspects of KBG syndrome, including seizures, MRI findings, and behavior difficulties. It is argued that diagnostic criteria for KBG syndrome should include neurological involvement, that is, global developmental delay, seizures, and/or mental retardation (MR). The characteristic facial changes and representative hand and costovertebral anomalies are also defined. These diagnostic criteria were obtained from 50 publications and appeared to support the diagnosis in 43 cases. They will be helpful to pediatricians, geneticists, and neurologists in evaluating patients for this condition. © 2007 Wiley‐Liss, Inc.

[1]  M. Digilio,et al.  KBG syndrome in a cohort of Italian patients , 2004, American journal of medical genetics. Part A.

[2]  T. Félix,et al.  Clinical variability in KBG syndrome: Report of three unrelated families , 2004, American journal of medical genetics. Part A.

[3]  M. Tekin,et al.  The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype , 2004, American journal of medical genetics. Part A.

[4]  M. King,et al.  The KBG syndrome, characteristic dental findings: a case report. , 2008, International journal of paediatric dentistry.

[5]  R. Winter,et al.  The KBG syndrome. , 2000, Clinical dysmorphology.

[6]  B. Devauchelle,et al.  The KBG syndrome: an additional sporadic case. , 2000, Genetic counseling.

[7]  K. Devriendt,et al.  Further delineation of the KBG syndrome. , 1998, Genetic counseling.

[8]  S. Kofman‐Alfaro,et al.  Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome , 1996, Clinical genetics.

[9]  J. Fryns,et al.  The KBG syndrome: follow‐up data on three affected brothers , 1994, Clinical genetics.

[10]  G. Scarano,et al.  Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. , 1994, American journal of medical genetics.

[11]  T. Croll,et al.  Dental twinning anomalies: the nomenclature enigma. , 1990, Quintessence international.

[12]  J. Fryns,et al.  Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother , 1984, Clinical genetics.

[13]  I. Tollaro,et al.  [Dento-maxillo-facial anomalies in the KBG syndrome]. , 1984, Minerva stomatologica.

[14]  C. Calzolari,et al.  [K.G.B. syndrome: review of the literature and presentation of a case]. , 1983, Archivio "Putti" di chirurgia degli organi di movimento.

[15]  J. Fryns,et al.  Short stature, craniofacial dysmorphism and dento‐skeletal abnormalities in a large kindred , 1977, Clinical genetics.

[16]  J. Opitz,et al.  The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. , 1975, Birth defects original article series.

[17]  R. Moyers.  Handbook of orthodontics for the student and general practitioner , 1973 .