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 3 Distribution of ratings based on physical exam (PE) and 2D images for 78 hemifaces of 39 participants

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

	2D photo (n = 78)	PE (n = 78)		2D photo (n = 78)	PE (n = 78)		2D photo (n = 78)	PE (n = 78)
Craniofacial feature	n (%)	n (%)	Craniofacial feature	n (%)	n (%)	Craniofacial feature	n (%)	n (%)
Orbital size			Brow palsy			Ear
Normal	77 (99)	75 (96)	None	60 (97)	65 (90)	Unaffected
Abnormal	1 (1)	3 (4)	Present	2 (3)	7 (10)	Normal	35 (46)	36 (47)
Missing	0	0	Missing	16	6	All parts present, mild	11 (15)	9 (12)
History of surgery	none	none	History of surgery	none	none	deformity
Orbital displacement			Orbic palsy			Affected
Normal	63 (81)	62 (85)	None	68 (100)	69 (96)	Auricle 1/2-1/3 of	6 (8)	7 (9)
Inferior displacement	6 (8)	6 (8)	Present	0 (0)	3 (4)	predicted size, not
Superior displacement	9 (12)	5 (7)	Missing	10	6	all parts present
Missing	0	5	History of surgery	none	none	Severely malformed^c	22 (29)	24 (31)
History of surgery	none	none	Smile palsy			Anotia	2 (3)	1 (1)
Occlusal plane			None	69 (100)	77 (99)	Missing	2	1
Unaffected			Present	0 (0)	1 (1)	History of surgery^b	5 (6)	4 (5)
No cant	44 (70)	45 (68)	Missing	9	0	Ear canal
1–5°	11 (18)	9 (14)	History of surgery	none	none	Normal	35 (53)	44 (60)
Affected			Lower lip palsy			Stenosis	3 (5)	6 (8)
6–15°	7 (11)	11 (17)	None	56 (85)	63 (83)	Atresia	28 (42)	24 (32)
>15°	1 (2)	1 (2)	Present	10 (15)	13 (17)	Missing	12	4
Missing	15	12	Missing	12	2	History of surgery	1 (1)	1 (1)
History of surgery	none	none	History of surgery	none	none
Mandible						Preauricular tag
Unaffected			Upper lid coloboma			None	58 (78)	61 (86)
Normal	42 (54)	39 (50)	None	75 (96)	76 (97)	Present	16 (21)	10 (14)
Mild hypoplasia	15 (19)	14 (18)	Present	3 (4)	2 (3)	Missing	4	7
Affected			Missing	0	0	History of surgery	8 (10)	9 (16)
Moderate hypoplasia	9 (12)	8 (10)	History of surgery	none	none	Ear tag
Mod-sev hypoplasia	7 (9)	11 (14)	Lower lid coloboma			None	69 (92)	67 (94)
Severe hypoplasia	5 (6)	6 (8)	None	78 (100)	78 (100)	Present	6 (8)	4 (6)
Missing	0	0	History of surgery	none	none	Missing	3	7
History of surgery	0 (0)	3 (3.8)	Iris coloboma			History of surgery	6 (8)	7 (9)
Soft tissue deficiency			None	72 (100)	78 (100)	Facial tag
Unaffected			Missing	6	0	None	71 (96)	70 (97)
Normal	38 (49)	38 (49)	History of surgery	none	none	Present	3 (4)	2 (3)
Minimal	23 (30)	20 (26)	Strabismus			Missing	4	6
Affected			None	75 (97)	77 (100)	History of surgery	8 (10)	7 (9)
Moderate	15 (20)	17 (22)	Exotropia	2 (3)	0 (0)	Preauricular pit
Severe	1 (1)	3 (4)	Missing	1	0	None	74 (99)	74 (97)
Missing	1	0	History of surgery	none	none	Present	1 (1)	2 (3)
History of surgery	0 (0)	1 (1)	Dermoid			Missing	3	2
Cleft lip			None	75 (96)	74 (95)	History of surgery	3 (4)	2 (3)
None	71 (99)	75 (96)	Present	3 (4)	4 (5)	Ear pit
Present	1 (1)	3 (4)	Missing	0	0	None	73 (97)	74 (97)
Missing	6	0	History of surgery	0 (0)	1 (1)	Present	2 (3)	2 (3)
History of surgery	none	none	Lateral oral cleft			Missing	3	2
Tongue			No cleft	71 (92)	70 (91)	History of surgery	3 (4)	2 (3)
Normal	62 (94)	74 (97)	Cleft terminates medial^a	6 (8)	4 (5)	Facial pit
Mild dysmorphism	4 (6)	2 (3)	Cleft terminates lateral^a	0 (0)	3 (4)	None	74 (100)	77 (100)
Missing	12	2	Missing	1	1	Missing	4	1
History of surgery	none	none	History of surgery	3 (4)	3 (4)	History of surgery	4 (5)	1 (1)

^ato anterior border of masseter
^bnon-missing ear ratings which also had a history of surgery corresponded to ratings of “severly malformed, often peanut shaped” and “anotia”; these ear ratings were carried out despite history of surgery since surgery did not affect raters ability to judge severity of ear involvement
^coften peanut shaped
Hx history

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