Table 3.

Complete panel of clinical manifestations in ring 15 chromosome patients (N = 97)

Clinical features	Current case	Clinical cases	Total	%	Reference
Weight and height
Weight (< 2100 g)	+	41	42	42.86	[4, 17, 22–39]
Height (< 46 cm)	+	24	25	25.51	[4, 7, 8, 17, 22–25, 29, 30, 38, 40–48]
Craniofacial
Microcephaly	+	38	39	39.80	[4, 6, 8, 10, 15, 23–25, 29, 33–35, 37–39, 42, 44, 46, 47, 49–58]
Brachycephaly	–	5	5	5.10	[4, 10, 45, 50]
Hypertelorism	+	17	18	18.37	[6, 8, 16, 17, 24–26, 41, 42, 50, 51, 55, 59–62]
Frontal bossing	–	8	8	8.16	[4, 6, 10, 25, 28, 42, 51, 63]
Sparse temporal hair	+	5	6	6.12	[32, 35, 51, 52, 63, 64]
Short palpebral fissure	–	6	6	6.12	[17, 23, 32, 53, 54, 65]
Low and sharp tapering ears	+	16	17	17.35	[6, 7, 17, 23, 25, 29, 32, 33, 36, 42, 43, 53, 59, 61, 66, 67]
Triangular face	–	32	32	32.65	[8, 15, 24, 25, 27–30, 32–34, 38, 40, 43, 44, 46, 48, 50, 51, 54, 55, 57, 58, 66–68]
Broad nasal bridge	+	21	22	22.45	[8, 15, 18, 23, 24, 32–34, 36, 38, 44, 49, 63, 65, 67, 68]
Small nose	–	7	7	7.14	[8, 28, 32, 33, 44, 63]
Short philtrum	–	10	10	10.20	[6, 15, 25, 28, 35, 39, 48, 51, 56, 63]
Mouth with down-turned corners	+	8	9	9.18	[25, 32, 33, 43, 48, 54, 55, 69]
Hypoplasia of labia minora	–	5	5	5.10	[32, 34, 38, 44, 70]
High-arched palate	–	21	21	21.43	[4, 6, 8, 13, 17, 24–26, 30–32, 38, 44, 52–54, 59, 65, 66]
Epicanthal folds	–	9	9	9.18	[15, 34, 37, 39, 48, 52, 53, 63, 65]
Micrognathia	–	15	15	15.31	[15, 24, 25, 48, 51–55, 57, 63, 67, 68, 71]
Retrognathia	–	10	10	10.20	[4, 6, 8, 17, 34, 44, 45, 51, 70]
Strabismus	–	7	7	7.14	[18, 26, 29, 32, 54, 56, 66]
Musculoskeletal
Delayed bone age	–	21	21	21.43	[6, 18, 22, 24, 30, 34, 37, 38, 43, 45–47, 53, 60, 62, 64, 72, 73]
Short neck	–	9	9	9.18	[8, 24, 32, 44, 48, 52]
Scoliosis	–	6	6	6.12	[4, 24, 38, 39, 41, 44]
Skin
Abnormal simian crease	–	5	5	5.10	[32, 57, 59, 64, 65]
Café au lait macules	+	24	25	25.51	[4, 6, 15, 22, 28–30, 32, 37–39, 41, 46, 50, 51, 53, 54, 56, 59, 64, 66, 69, 74]
Cardiac
Patent ductus arteriosus	–	5	5	5.10	[32, 33, 42, 43, 71]
Atrial septal defect	–	6	6	6.12	[6, 15, 18, 32, 33]
Ventricular septal defect	–	5	5	5.10	[15, 22, 33, 42]
Diaphragmatic hernia	–	7	7	7.14	[25, 33, 36, 47, 67]
Shield chest	–	5	5	5.10	[25, 42, 52, 68]
Hypoplasia of the mammary glands	–	6	6	6.12	[52]
Limbs
Clinodactyly	–	33	33	33.67	[4, 6, 8, 24, 26, 28, 32–34, 38, 43, 44, 50, 53, 54, 64, 68, 69, 71]
Brachymesophalangy	–	32	32	32.65	[7, 8, 25, 32, 38, 42, 44, 46, 50, 52, 66, 70–72]
Dysmorphic phalanx	–	5	5	5.10	[7, 38, 52]
Abnormal palmar crease on fingers	–	5	5	5.10	[4, 25, 26, 43, 72]
Arachnodactyly	–	6	6	6.12	[41–43, 62, 65, 66]
Small hands	–	12	12	12.24	[7, 8, 17, 18, 24, 32, 36, 44, 54, 71]
Single sandal gap	–	1	1	1.02	[30
Disproportionate growth of limbs	–	8	8	8.16	[28, 42, 43, 55, 61, 65, 69]
Urogenital
Uterine hypoplasia	n/a	5	5	5.10	[52]
Ovarian hypoplasia	n/a	6	6	6.12	[52]
Small genitalia	n/a	6	6	6.12	[25, 31, 47, 65, 66]
General
Hypotonia	–	10	10	10.20	[17, 23, 24, 26, 31, 59, 69, 75]
Growth retardation	+	74	75	76.53	[6–10, 15, 17, 18, 22–35, 37–40, 42–49, 51, 52, 54–56, 58–60, 64, 65, 67, 70–74, 76, 77]
Overweight	–	9	9	9.18	[30–32, 39, 47, 52, 54, 76]
Feeding problems	–	9	9	9.18	[31, 42, 54, 59, 69, 71]
Behavioral
Retarded gross motor milestones	–	19	19	19.39	[7, 8, 18, 22, 29, 30, 32, 38, 40, 44, 47, 48, 55, 59, 60, 69, 73, 77]
Developmental delay	–	27	27	27.55	[4, 6, 17, 18, 22, 24, 27, 28, 30, 32, 40, 47, 48, 54–56, 59, 60, 63, 72, 73, 77]
Mental deficit	–	40	40	40.82	[4, 7–10, 15, 26–29, 31, 32, 35, 38, 39, 41, 44, 46, 47, 49, 54, 59, 64, 71, 72, 75, 77]
Visual discrimination	–	1	1	1.02	[44]
Language deficit	–	27	27	27.55	[4, 15, 18, 22, 23, 27, 31, 32, 35, 38, 44, 48, 51, 53–55, 59, 63, 65, 69, 73, 75, 76]
Aggressive mood	–	5	5	5.10	[23, 35, 69, 70]

n/a not applicable