Table 1

Summary of major clinical findings in Kabuki patients.
Sample
 KS1
 KS2
 KS3
 KS4
 KS5
 KS6
 KS7
 KS8
 KS9
 KS10
 KS11
 KS12
 KS13*
 KS14 *
 KS15
 KS16
 2q37.3 deletion
Age
 20 months
 5 years
 10 years
 10 years
 4 years
 7 years
 2 years
 2 years
 8 years
 8 months
 12 years
 10 years
 20 years
 17 years
 8 years
 8 months
Gender
 Female
 Female
 Male
 Female
 Male
 Female
 Male
 Male
 Male
 Male
 Male
 Male
 Female
 Male
 Male
 Female
Prenatal growth restriction
 +
 -
 +
 -
 -
 +
 -
 -
 +
 -
 -
 -
 -
 -
 -
 +
 -
Postnatal growth restriction
 +
 -
 -
 -
 -
 +
 +
 +
 -
 -
 -
 +
 -
 +
 -
 +
 +
Microcephaly
 -
 -
 -
 +
 -
 -
 +
 -
 +
 +
 -
 +
 -
 -
 -
 +
 +
Craniofacial abnormality
















     Prominent forehead
 -
 +
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 +
 -
 -
 +
     Long palpebral fissures
 -
 -
 -
 -
 +
 +
 +
 +
 +
 +
 -
 +
 +
 +
 +
 +
 -
     Lower palpebral eversion
 -
 -
 +
 -
 -
 -
 +
 -
 +
 -
 +
 +
 +
 +
 +
 +
 -
     Arched eyebrows
 -
 +
 +
 +
 +
 -
 +
 -
 -
 -
 -
 -
 +
 +
 -
 +
 +
     Deep set eyes
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 +
 -
 -
 +
     Blue sclerae
 +
 +
 +
 -
 +
 -
 +
 -
 -
 +
 -
 -
 -
 -
 -
 +
 -
     Short, upturned nose
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 +
     Depressed nasal tip
 +
 +
 +
 +
 +
 +
 +
 -
 +
 +
 -
 +
 -
 +
 -
 +
 -
     Preauricular pit
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 +
 -
 -
 -
 -
 -
     Prominent or dysmorphic ears
 +
 +
 +
 -
 +
 +
 +
 +
 +
 -
 -
 +
 +
 +
 -
 +
 +
     Cleft palate
 BU
 -
 -
 -
 BU
 -
 -
 -
 BU
 -
 -
 -
 -
 -
 +
 +
 -
     Tented upper lip
 -
 +
 +
 +
 +
 -
 +
 -
 -
 +
 +
 +
 +
 -
 +
 -
 -
     High-arched palate
 +
 -
 -
 +
 -
 +
 +
 +
 +
 -
 -
 +
 +
 +
 +
+
     Strabismus
 -
 +
 -
 -
 -
 -
 -
 mo
 -
 -
 -
 +
 +
 -
 -
+
     Abnormal Dentition
 -
 +
 -
 -
 -
 -
 -
 -
 -
 -
 +
 -
 +
 +
 -
-
Skeletal abnormality
















     Brachydactyly one finger or general
 +
 +
 +
 +
 +
 +
 +
 -
 -
 -
 -
 +
 +
 -
 -
 +
 +
     Short 5th finger with clinodactyly
 -
 -
 +
 +
 -
 -
 -
 -
 -
 -
+
 +
 -
 -
 +
 -
     Abnormal vertebrae/ribs
 -
 RH
 -
 -
 -
 -
 -
 -
 -
 TR
 -
 -
 +
 DR
 -
+
     Scoliosis
 -
 -
 -
 -
 -
 -
 -
 -
 -
 -
 +, dorsal
 -
 -
 -
 -
+
     Joint laxity
 +
 -
 -
 +
 -
 -
 +
 -
 -
 -
 -
 +
 -
 -
 -
+
     Prominent finger tip pads
 +
 +
 +
 +
 +
 +
 +
 +
 +
 +
 -
 +
 +
 +
 +
-
Neurologyc abnormality
















     Hypotonia in infancy
 +
 +
 -
 +
 +
 +
 +
 +
 +
 +
 -
 +
 +
 +
 +
 -
 +
     Mental retardation
 mild
 mild
 -
 severe
 mild
 mild
 mild
 mild
 mild
 severe
 -
 mild
 mild
 mild
 mild
 mild
 +
     Seizure
 +
 +
 +
 -
 +
 -
 +
 -
 -
 -
 -
 -
 -
 -
 -
 -
 +
Visceral abnormality
















     Cardiovascular anomaly
VSD
 -
 -
 -
 -
 ASD
 -
 -
 PDA
 -
 VSD, RAA, ASA
 -
 VSD
 -
 VSD
 +
     Renal and urinary tract anomalies
-
 -
 -
 -
 NB
 -
 -
 -
 PD
-
 -
-
 PD
 +
     CNS malformation
 BA, HCC, CV
-
 -
 -
-
 -
 -
 -
 -


-
+
     Anogenital anomaly
APA
 -
 -
 MG
 -
 -
 -
 NP
 -
 -
 -
 -
-
 HC, APA
 +
Hearing
















     Recurrent otitis media
+
 -
 +
 -
 -
 +
 -
 -
 -
 -
 +
 -
 -
 -
+
     Hearing loss
 +
 -
 -
 +
SN
+
 -
 -
 -
 -
 -
 -
 -
+
Other









TDAH, AS, SD
AS, M
 MA, HH

many
Analyzed by CGH array
 -
 +
 -
 -
 -
 +
 +
 +
 +
 +
 -
 +
 -
 +
 +
 +

APA = anteriorly place anus; AS = Astigmatism; ASA = aberrant subclavian artery; ASD = Auricular septal defect; BA = brain atrophy; BU = bifid uvula; CV = Cerebellar vermis; DR = Deformed ribs; HCC = hypoplastic corpus callosum; HC = hypertrophic clitoris; HH = hiatal hernia; M = Myopia; MA = metatarsus adductus; MG = Macrogenitalia; NB = neurogenic bladder; NP = narrow penis; PD = pelvis dilatation; PDA = Patent Ductus Arteriosus; RAA = right aortic arch; SD = School delay; SN = sensori neural; TR = thin ribs; VSD = Ventricular septal defect; RH = rib hypoplasia; * Patients previously published [13]

Cuscó et al. BMC Medical Genetics 2008 9:27   doi:10.1186/1471-2350-9-27