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