Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs

Craig B. Birgfeld; Carrie L. Heike; Babette S. Saltzman; Brian G. Leroux; Kelly N. Evans; Daniela V. Luquetti

doi:10.1186/s13005-016-0109-x

Table 2 Select demographic and phenotypic characteristics of 39 participants with CFM based on physical exam^a

From: Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs

	All (n = 39)	Microtia/anotia only (n = 8)	Facial hypoplasia and microtia^b (n = 15)	Facial hypoplasia without microtia^c (n = 5)	Microtia without facial hypoplasia^b (n = 6)	Neither facial hypoplasia nor microtia^c (n = 5)
Characteristic	n (%)	n (%)	n (%)	n (%)	n (%)	n (%)
Race
White	18 (46)	3 (38)	8 (50)	4 (80)	3 (60)	0 (0)
Asian	14 (36)	2 (25)	6 (38)	1 (20)	2 (40)	3 (60)
Native American	2 (5)	2 (25)	0 (0)	0 (0)	0 (0)	0 (0)
Other	5 (13)	1 (13)	2 (13)	0 (0)	0 (0)	2 (40)
Ethnicity
Non-Hispanic	32 (82)	6 (75)	13 (81)	5 (100)	4 (80)	4 (80)
Hispanic	7 (18)	2 (25)	3 (19)	0 (0)	1 (20)	1 (20)
Age
<1	2 (5)	0 (0)	0 (0)	0 (0)	1 (17)	1 (20)
1–5	11 (28)	2 (25)	5 (33)	2 (40)	2 (33)	0 (0)
>5–10	13 (33)	2 (25)	5 (33)	1 (20)	3 (50)	2 (40)
>10–15	5 (13)	1 (13)	1 (7)	1 (20)	0 (0)	2 (40)
>15–21	8 (21)	3 (38)	4 (27)	1 (20)	0 (0)	0 (0)
Sex
Male	20 (51)	4 (50)	7 (47)	5 (100)	2 (33)	2 (40)
Microtia or Anotia
None	10 (26)	0 (0)	0 (0)	5 (100)	0 (0)	5 (100)
Unilateral	26 (67)	8 (100)	12 (80)	0 (0)	6 (100)	0 (0)
Bilateral	3 (8)	0 (0)	3 (20)	0 (0)	0 (0)	0 (0)
Facial Hypoplasia
None	19 (49)	8 (100)	0 (0)	0 (0)	6 (100)	5 (100)
Unilateral	17 (44)	0 (0)	14 (93)	3 (60)	0 (0)	0 (0)
Bilateral	3 (8)	0 (0)	1 (7)	2 (40)	0 (0)	0 (0)
Dermoid
None	36 (92)	8 (100)	14 (93)	5 (100)	5 (83)	4 (80)
Unilateral	3 (8)	0 (0)	1 (7)	0 (0)	1 (17)	1 (20)
Any Tag
None	21 (54)	8 (100)	9 (60)	1 (20)	1 (17)	2 (40)
Unilateral	14 (36)	0 (0)	5 (33)	3 (60)	3 (50.0)	3 (60)
Bilateral	4 (10)	0 (0)	1 (7)	1 (20)	2 (33)	0 (0)
Any Pit
None	36 (92)	8 (100)	12 (80)	5 (100)	6 (100)	5 (100)
Unilateral	3 (8)	0 (0)	3 (20)	0 (0)	0 (0)	0 (0)
Lateral Oral Cleft
None	33 (85)	8 (100)	12 (80)	3 (60)	5 (83)	5 (100)
Unilateral	5 (13)	0 (0)	3 (20)	1 (20)	1 (17)	0 (0)
Bilateral	1 (3)	0 (0)	0 (0)	1 (20)	0 (0)	0 (0)

^aEach clinician rated at least 11 participants (n = 11, 15 and 13, respectively)
^bWith or without other features from the FACIAL inclusion criteria
^cWith other features from the FACIAL inclusion criteria

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