Table 1.

Comparison of the Clinical Findings in the Patients with OFD1 Mutations in This Report with Previously Published Cohorts

	Presence of clinical features in % (n of patients in which symptom was observed/assessed)
Clinical Features	Gorlin et al. 2001	Macca and Franco 2009	This study
Craniofacial			82.8 (24/29)
Brittle or sparse hair/alopecia	15 to 65	21.5 (110/126)	40.7 (11/27)
Facial dysmorphism	25 to 75	69.1 (87/126)	80.8 (21/26)
Facial milia	10 to 35	29.4 (37/126)	60.0 (3/5)
Frontal bossing			40.0 (8/20)
Downslanting palpebral fissures			51.8 (14/27)
Hypertelorism/telecanthus			50.0 (13/26)
Epicanthus			26.9 (7/26)
Broad nasal ridge			48.1 (13/27)
Microretrognathia/retrognathia			50.0 (13/26)
Cleft lip/pseudo-cleft of the upper lip	35 to 45	32.6 (44/135)	57.7 (15/26)
Abnormal ears			30.7 (8/26)
Oral		96.8% (122/126)	100 (31/31)
Teeth abnormalities	20 to 50	43.3 (58/134)	87.0 (20/23)
Missing/supernumary teeth			87.0 (20/23)
Enamel hypoplasia			20.0 (3/15)
Oral frenula	75 to 80	63.7 (86/135)	78.6 (22/28)
Tongue anomalies	75	84.1 (106/126)	78.6 (22/28)
Bifid tongue			64.3 (18/28)
Tongue hamartomas			67.8 (19/28)
Cleft/high-arched palate	35 to 80	49.6 (67/135)	71.4 (20/28)
Bifid uvula			8.3 (2/24)
Skeletal		88.1 (111/126)	80.0 (24/30)
Syndactyly			55.5 (15/27)
Clinodactyly		47.4 (64/135)	50.0 (13/26)
Metacarpal shortening/brachydactyly		63.7 (86/135)	52.0 (3/25)
Polydactlyly		23.0 (31/135)	12.0 (3/25)
Tibia dysplasia/shortening			8.6 (2/23)
Hip dysplasia			28.6 (2/7)
Kidneys
Cystic kidney disease	15 to 50	37.3 (50/134)	26.1 (6/23)
Under 18 years			0
Over 18 years			100.0 (6/6)
Neurological
Central nervous system (CNS) involvement	50	48.4 (61/126)	64.5 (20/31)
Mental retardation		28.9 (39/135)	28.0 (7/25)
Psychomoter retardation			19.2 (5/26)
MRI available			22.5 (7/31)
Hydrocephalus/porencephaly			61.5 (8/13)
Cortical dysgenesis			66.6 (4/6)
Corpus callosum dysgenesis/agenesis			81.2 (13/16)
Cysts			53.8 (7/13)
Epilepsy			16.0 (4/25)