Table 1.
Compilation of Phenotypic Features of Both Individuals in Comparison to Those of Classical HGPS, NGPS, and PYCR1-Related Autosomal-Recessive Cutis Laxa
| Disorder | LEMD2-Associated Nuclear Envelopathy, Individual 1 | LEMD2-Associated Nuclear Envelopathy, Individual 2 | Hutchinson-Gilford Progeria Syndrome | Néstor-Guillermo Progeria Syndrome | PYCR1-Related Autosomal Recessive Cutis Laxa | |
|---|---|---|---|---|---|---|
| Gene, Protein(s) | LEMD2, LEM domain-containing protein 2 | LEMD2, LEM domain-containing protein 2 | LMNA, lamin A and C | BANF1, barrier-to-autointegration factor | PYCR1, pyrroline-5-carboxylate reductase 1 | |
| Facial Features | Triangular face | +++ | +++ | ++ | + | +++ |
| Prominent eyes | +++ | +++ | +++ | +++ | ++ | |
| Crooked nose, septum deviation | +++ | + | ++ | +++ | - | |
| Mandibular hypoplasia | +++ | ++ | ++ | +++ | - | |
| Skin, Hair, Nails, and | Juvenile alopezia | - | - | +++ | ++ | - |
| Subcutaneous Tissue | Loss of eyebrows | - | - | +++ | - | - |
| Thin skin, prominent veins | + | ++ | +++ | +++ | ++ | |
| Cutis laxa | - | - | - | - | +++ | |
| Patchy hyperpigmentation | - | - | + | + | - | |
| Dystrophic nails | - | - | + | + | - | |
| Generalized lipoatrophy | ++ | + | +++ | ++ | - | |
| Skull and Dentures | Microcephaly | +++ | ++ | ++ | - | + |
| Wormian bones | +++ | +++ | - | - | + | |
| Open cranial sutures | - | - | - | +++ | - | |
| Dental crowding | +++ | +++ | - | +++ | - | |
| Supernumerary teeth | +++ | +++ | - | - | - | |
| Delayed dentition | +++ | +++ | + | - | - | |
| Skeletal Features | Short stature | +++ | -a | +++ | +++ | + |
| Low bone density | ++ | - | ++ | +++ | ++ | |
| Hypoplastic clavicles | ++ | ++ | ++ | +++ | - | |
| Osteolytic foci | - | - | ++ | +++ | - | |
| Joint hyperlaxity | - | - | - | - | ++ | |
| Limited joint mobility | - | - | ++ | +++ | - | |
| Other Features | IUGR | + | - | - | - | ++ |
| Atherosclerosis | - | - | +++ | - | - | |
| Intention tremor | ++ | ++ | - | - | - | |
| Developmental delay | - | - | - | - | ++ |
Compilation of phenotypic features of both individuals in comparison to those of classical Hutchinson-Gilford Progeria Syndrome (HGPS), the phenotypically overlapping Néstor-Guillermo Progeria Syndrome (NGPS), and PYCR1-related autosomal-recessive cutis laxa, to which a high facial similarity was demonstrated upon image analysis. The novel LEMD2-associated phenotype has a characteristic and distinctive pattern of features involving several organ systems but still displaying the highest similarity to the nuclear envelopathies NGPS and HGPS.
Normal height (32th percentile) after GH-Treatment beginning at the age of 4 years.