Clinical features of reported cases with monosomy for chromosome 1p36
| Reish et al6 (case 3) | Keppler-Noreuil et al4 (cases 1–3) | Giraudeau et al8 | Shapira et al9 (cases 1–12, 14) | Riegel et al11 | |
|---|---|---|---|---|---|
| Birth | |||||
| Gestation | 41 wk; 35 wk; 39 wk | Term | 41 wk | ||
| Birthweight | <10th; 10th; 30th | 2490 g (10th) | 2650 g (<3rd) | ||
| OFC at birth | 90th (3rd case) | 33 cm (25th) | |||
| Age at assessment | 47 y | 2 y; 18 mth; 20 mth | 16 y | 3 y 9 mth | |
| Growth | |||||
| Height | <5th; <5th; 75th | 98 cm (10th) | |||
| Weight | 36.2 kg (<5th) | <5th; <5th; 75th | 15 kg (10–25th) | ||
| OFC | 51.3 cm (−2 SD) | 10th; 10th-25th; 5th | 49.5 cm (<<3rd) | 47 cm (−2.1 SD) | |
| Facies | |||||
| Brachycephaly | + (1/3) | + (5/13) | + | ||
| Large anterior fontanelle | + (3/3) | + | + (8/8) | ||
| Frontal bossing | + (1/3) | ||||
| Broad/long forehead | + | + | + | ||
| Facial/ear asymmetry | + (1/3) | + | + (7/13) | + | |
| Eyes | |||||
| Deep set eyes | + | + (6/13) | |||
| Almond shaped eyes | |||||
| Hypertelorism | + (1/3) | + (2/13) | |||
| Epicanthic folds | + (1/3) | + | |||
| Small/short fissures | + (2/3) | + (3/13) | |||
| Slanting fissures | + | + (1/3) | + (6/13); (4/13) | + | |
| Nose | |||||
| Flat nasal bridge | + (1/3) | + (9/13) | |||
| Flat/hypoplastic midface | + | + (1/3) | + | ||
| Ears | |||||
| Dysplastic helices | + | + | + (3/13)2-150 | ||
| Small ears | + | + (1/3) | + (4/13) | ||
| Low set ears | + | + (3/3) | + (6/13) | ||
| Auricular pit | + (1/3) | ||||
| Mouth and chin | |||||
| Down turned mouth | + | + | |||
| Small mouth | + (2/3) | + | + | ||
| Prominent/pointed chin | + | + (10/13)2-151 | |||
| Digits | |||||
| Brachydactyly | + | + | + | ||
| Tapering fingers | + (1/3) | ||||
| Fifth finger clinodactyly | + (1/3) | + (8/13) | |||
| Syndactyly | + | ||||
| Small hands and feet | + | + (1/13) | + | ||
| Slavotinek et al10 | Eugster et al13 | Faivre et al12 |
|---|---|---|
| 38 wk | 38 wk | Termination 28 wk |
| 1900 g (<3rd) | 2780 g | |
| 31.5 cm (<3rd) | ||
| 6 y | 4 y 6 mth | Prenatal |
| 94.5 cm (<<3rd) | 102 cm | |
| 9.6 kg (<<3rd) | 25 kg | |
| 45 cm (<<3rd) | ||
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