Figure 1
Figure 2
Phenotypic scoring system for KS proposed by the international consensus diagnostic criteria_ This table was adapted from the studies of Makrythanasis et al_ [13] and Adam et al_ [4]_
| Clinical Findings | Possible Score | Scored Features | Feature Present/Number of Points |
|---|---|---|---|
| Facial features | 0-5 pointsa | abnormal dentition | [–] |
| arched eyebrows, sparse lateral one-third | [+] | ||
| blue sclerae | [–] | ||
| broad nalal root | [+] | ||
| averted lower eyelids | [–] | ||
| flat nasal tip | [+] | ||
| high or cleft palate | [+] | ||
| large dysplastic ears | [+] | ||
| lip nodules | [–] | ||
| long palpebral fissures | [+] | ||
| micrognathia | [–] | ||
| oligodontia | [–] | ||
| ptosis | [–] | ||
| strabismus | [–] | ||
| thin vermillion of the upper lip and full lower lip | [+] | ||
| a 0-3 features = 1 point; 4-6 features = 2 points; 7-9 features = 3 points; 10-12 features = 4 points; 13-15 features = 5 points | 3 points | ||
| Limb/extremity features | up to 1 pointb | brachydactyly or clinodactyly | [+] |
| hip dislocation | [–] | ||
| lax joints | [–] | ||
| persistent fetal pads | [–] | ||
| b 0-1 feature = 0 point; 2-4 features = 1 point | 0 points | ||
| Heart | 1 point | 1 | |
| Kidney | 1 point | 1 | |
| Microcephaly | 1 point | 1 | |
| Short stature | 1 point | 1 Noticed during development. | |
| Summary | 1-10 points | 3+0+4=7 | |
Comparison of features observed in our proband with the most commonly observed features in individuals with heterozygous pathogenic mutation in the KMT2D gene_
| Phenotypic Features in Patients with KMT2D Mutations | Features Present in Our Proband |
|---|---|
| Intellectual disability (IQ <70) | not tested |
| Fetal fingertip pads | no |
| Congenital heart defect | yes |
| Long palpebral fissures | yes |
| Large, prominent or cupped ears | yes |
| Hypotonia | yes |
| Eversion of the lower eyelid | no |
| Arched or broad eyhrows | yes |
| Cleft palate | yes |
| Brachydactyly | yes |
| Short columella with depressed nasal tip | yes |
| Short stature | yes |
| Microcephaly | yes |
| Oligodontia and/or abnormal incisors | no |
| Feeding difficulties | yes |
| Developmental delay | yes |
| Latent eyebrows, sparse or notched | yes |
| Hearing loss | yes |
| Non traumatic joint dislocation | no |
| Hypogammaglobulin or low serum IgA | yes |
| Hyperinsulinemic hypoglycemia in infancy | no |
| Lip pits | no |
| Malpositioned kidneys | no |
| Idiopathic thrombocytopenia purpura (ITP) | no |
| Hypospadias in males | no |