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 | |||
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 | |||
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 |
Phenotypic Features in Patients with | 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 |