Figure 1
The patient at 1 week old, note the severe ectropion, macrostomia, and alopecia totalis (with consent from the mother of the patient for publication).
Figure 2
Genital examination, note absent clitoris, and the anteriorly located anus (with consent from the mother of the patient for publication).
Figure 3
The patient at 1 year and 6 months old, note the improvement of the eyelids following skin graft (with consent from the mother of the patient for publication).
Table 1
Clinical characteristics of the patient with ablepharon macrostomia syndrome compared with patients other syndromes having a TWIST2 variation
| Clinical characteristic | Present case | AMS† (%) | BSS‡ (%) | FFDD3§ (%) |
|---|---|---|---|---|
| TWIST2 mutation | p.Glu75Lys | p.Glu75Lys | p.Glu75Gln, p.Glu75Ala, p.Gln77_Arg78dup | p.Leu109Pro, p.Gln119Ter, p.Gln65Ter, p.Arg31Glyfs*71, p.Ser57Alafs*45 |
| Ophthalmic morphology | ||||
| Absent eyelids | + | 75 | 6 | − |
| Ectropion | + | 94 | 81 | − |
| Entropion | − | 6 | − | −†† |
| Facial morphology | ||||
| Bitemporal narrowing | + | 56 | 50 | 100 |
| Excessive creases | + | 81 | 81 | 89 |
| Macrostomia | + | 81 | 100 | 33 |
| Small ears | + | 75 | 50 | 78 |
| Ectodermal signs | ||||
| Sparse scalp hair | + | 75 | − | 89 |
| Sparse/absent eyebrows | + | 100 | 63 | 100 |
| Sparse/absent eyelashes | + | 100 | 69 | 100 |
| Wrinkled skin/redundant skin | + | 94 | 88 | 89 |
| Genitalia and anus | ||||
| Small labia majora | + | 56 | 13 | − |
| Anteriorly located anus | + | 25 | − | NA |
| Growth impairment¶ | ± | 67 | − | NA |
| Facial morphology | ||||
| Extension of septum on philtrum | − | − | 50 | 100 |
| Everted upper vermillion | − | − | − | 44 |
| Ectodermal signs | ||||
| Hypertrichosis | − | − | 94 | − |
| Limb anomalies | ||||
| Syndactyly | − | 44 | 6 | − |
| Camptodactyly | − | 38 | − | − |
| Developmental delay | − | 30 | 25 | 13 |