Table 5.
Comparison of clinical characteristics of individuals 8 and 9 to mandibular hypoplasia, deafness, progeroid features, and lipo-dystrophy syndrome (MDPL, Lessel et al. 2015), marfanoid-progeroid-lipodystrophy syndrome (MPLS, Passarge et al. 2016) and Berardinelli-Seip congenital lipodystrophy (BSCL, Van Maldergem L. 2016)
| Individual 8 | Individual 9 | MDPL Lessel et al. |
MPLS Passarge et al. |
BSCL Van Maldergem L. |
|
|---|---|---|---|---|---|
| Sex | Male | Male | 7 female and 6 male | 6 female and 1 male | Female and male |
| Age | 10 years | 12 years | 10–62 years | 3.5–27 years | Various |
| 9 months | |||||
| Ethnicity | European | European | Various | Various | Various |
| Intrauterine growth retardation | + | + | 0/13 | 7/7 | Rare |
| Triangular face | + | − | 0/13 | 0/7 | − |
| Sparse scalp hair | + | − | 0/13 | 0/7 | − |
| Greying or loss of hair | − | − | 3/13 | 0/7 | − |
| Prominent scalp veins | + | − | 0/13 | 0/7 | − |
| Dental crowding/irregular teeth | − | − | 10/13 | 0/7 | − |
| Myopia | − | − | 0/13 | 6/7 | − |
| Cataracts | + | − | 0/13 | 0/7 | − |
| Hearing impairment | − | − | 10/13 | 0/7 | − |
| Joint contractures | − | + | 5/13 | − | |
| Hyperextensible joints | − | − | 0/13 | 5/7 | − |
| Arachnodactyly | − | − | 0/13 | 7/7 | − |
| Bone age | Advanced | Delayed | n.r | n.r | Advanced |
| Osteopenia | − | − | 6/13 | n.r | − |
| Scoliosis | − | + | 0/13 | 2/6 | − |
| Osteopenia | − | − | 6/13 | − | |
| Congenital lipodystrophy | + | − | 0/13 | 7/7 | + |
| Lipodystrophy | + | + | 13/13 | 7/7 | + |
| Stature | Short | − | Short: 8/13 | tall | − |
| Acromegaly | − | − | 0/13 | n.r | + |
| Muscle wasting | − | + | 11/13 | n.r | − |
| Abnormal cognitive function | − | − | 1/13 | 0/7 | Mild to moderate |
| Cardiac problems | − | − | 0/13 | Aortic root dilatation 3/7 | Hypertrophic cardiomyopathy |
| Mitral valve prolapse 3/7 | |||||
+
present
−
absent
n.r. not reported