Table 2 A review of physical features of MDPL
Site | Features | Frequency | Shastry et al. [1], Spo N | Weedon et al.[2], Spo | Pelosini et al. [9], Spo | Reinier et al.[10], Spo | Lessel et al. [3] | Ajluni et al. [18] | Elouej et al. [7], Spo | Okada et al.[11], Spo | Wang et al. [12], Spo | Fiorillo et al.[13], Spo | Sasaki et al.[14], Spo | Wang et al. [15], Spo | Oh et al. [8] | Yu et al. [16], Spo | Zhou et al. [17], Spo | Murdocca et al.[6] | This study Proband |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Weight | Normal birth weight | 23/23 | 7/7 | 2/2 |  +  |  +  | 4/4 | NA | 2/2 |  +  |  +  | NA |  +  | NA |  +  |  +  |  +  | NA | NA |
Face | Mandibular hypoplasia | 32/33 | 7/7 | 2/2 |  +  |  +  | 7/8 | 2/2 | 2/2 |  +  |  +  |  +  |  +  |  +  | – |  +  |  +  |  +  |  +  |
|  | Progeroid appearance | 8/11 | NA | NA | + | + | NA | 0/2 | NA | NA | + | NA | + | + | – | + | + | NA | + |
Ears | Sensorineural hearing loss | 26/32 | 7/7 | 2/2 | + | + | 5/8 | 0/2 | 1/2 | + | + | + | + | + | + | + | + | NA | + |
Eyes | Prominent eyes | 14/16 | 7/7 | NA | – | + | NA | NA | NA | + | + | NA | + | NA | – | + | + | NA | + |
Nose | Beaked nose | 29/30 | 7/7 | 2/2 | + | + | 8/8 | NA | 2/2 | + | + | + | + | + | – | + | NA | + | + |
Mouth | Small mouth | 18/19 | 7/7 | NA | + | + | NA | NA | NA | + | NA | + | + | + | – | + | NA | + | + |
Teeth | Crowded teeth | 19/28 | 2/7 | 2/2 | + | + | 5/8 | NA | 2/2 | + | + | NA | NA | + | – | + | + | NA | + |
Breasts | Poor breast development (female) | 8/8 | 2/2 | M | + | + | NA | NA | 1/1 | M | M | NA | NA | NA | M | + | + | + | NA |
Liver | Hepatomegaly | 6/14 | 3/5 | 0/2 | + | + | NA | NA | 0/2 | NA | NA | NA | NA | NA | – | NA | + | NA | – |
|  | Hepatic steatosis | 12/20 | 2/5 | 1/1 | + | + | 1/2 | NA | 0/2 | + | + | NA | + | + | – | + | NA | + | - |
Internal genitalia | Cryptorchidism (male) | 7/10 | 3/5 | 2/2 | F | F | NA | NA | 1/1 | + | NA | F | F | F | - | F | F | F | F |
Skeleton | Osteoporosis | 9/24 | 1/7 | 2/2 | NA | NA | 2/7 | NA | 1/2 | NA | + | – | NA | + | – | NA | NA | + | – |
|  | Joint contractures | 17/30 | 5/7 | 2/2 | – | + | 1/8 | 2/2 | 2/2 | + | + | + | NA | NA | – | – | + | NA | - |
Spine | Kyphosis | 6/10 | NA | 2/2 | + | – | NA | NA | 1/2 | – | NA | + | NA | NA | – | NA | NA | NA | + |
|  | Scoliosis | 4/9 | NA | 2/2 | + | – | NA | NA | 1/2 | – | NA | NA | NA | NA | – | NA | NA | NA | – |
Skin | Tight skin | 18/26 | 3/7 | 2/2 | – | – | 8/8 | NA | NA | + | + | NA | – | NA | – | + | + | NA | + |
|  | Scleroderma-like changes | 5/15 | 1/7 | NA | + | + | NA | NA | NA | – | NA | NA | – | NA | – | + | NA | + | – |
|  | Telangiectases | 17/26 | 4/6 | 2/2 | – | + | 5/8 | NA | 1/2 | + | NA | NA | + | NA | – | + | NA | + | – |
|  | Skin atrophy | 9/15 | 7/7 | NA | – | + | NA | NA | NA | – | – | NA | + | NA | – | – | NA | NA | – |
Soft tissues | Lipodystrophy | 32/33 | 7/7 | 2/2 | + | + | 8/8 | 2/2 | 2/2 | + | + | + | + | + | – | + | + | + | + |
|  | Loss of subcutaneous fat, particularly affecting the limbs | 23/31 | 3/7 | NA | – | + | 8/8 | 2/2 | 1/2 | + | + | + | + | + | – | – | + | + | + |
|  | Loss of subcutaneous fat, generalized | 7/31 | 4/7 | NA | + | – | 0/8 | 0/2 | 1/2 | – | – | – | – | – | – | + | – | – | – |
|  | Increased visceral fat | 14/22 | 2/5 | 2/2 | + | + | 1/2 | NA | 0/2 | + | + | + | + | + | – | + | NA | + | – |
Voice | High-pitched voice | 13/25 | 1/7 | 2/2 | NA | + | 5/8 | NA | 0/2 | + | + | NA | + | NA | – | NA | NA | NA | + |
Endocrine | Insulin resistance | 11/22 | 1/7 | 2/2 | + | + | NA | 2/2 | NA | – | – | + | + | + | – | – | NA | + | – |
|  | Diabetes mellitus | 13/33 | 2/7 | 2/2 | – | + | 2/8 | 2/2 | 0/2 | + | – | – | + | – | – | – | + | + | – |
|  | Hypogonadism (male) | 5/8 | NA | 2/2 | F | F | 1/2 | NA | 0/1 | + | + | F | F | F | – | F | F | F | F |
Others | Abnormal liver function tests | 7/15 | NA | 2/2 | NA | + | 0/3 | 2/2 | 0/1 | + | – | NA | + | NA | – | – | NA | NA | – |
|  | Hypertriglyceridemia | 20/29 | 6/7 | 2/2 | + | + | 5/6 | 2/2 | 0/2 | – | + | NA | + | – | – | – | + | NA | – |
|  | Onset of lipodystrophy in early childhood | 24/25 | 5/5 | 2/2 | + | + | 4/4 | NA | 2/2 | + | + | + | + | + | – | + | + | + | + |
|  | Onset of hearing loss in first or second decade | 23/28 | 7/7 | 1/2 | + | + | 5/8 | NA | 1/1 | + | + | + | + | + | NA | – | + | NA | + |