Case 1 (Family1) | Case 2 (Family 2) | Case 3 (Family 3) | |
---|---|---|---|
Genetic detection | |||
ARID1B mutations | − | c.2332 + 1G > A (splicing) | c.4741C > T (p.Q1581X) |
arrayCGH | 6q25.3 deletion | − | − |
Cytogenetic band deleted | 46,XX | 46,XX | 46,XX |
General information | |||
Age at report | 3y5m | 2y11m | 3y |
Sex | Female | Female | Female |
Birth weight (g) | 2950 | 2650 | 3200 |
Birth height (cm) | NA | 48 | 50 |
Head circumstances (cm) | NA | 32 | 34 |
Facial features | |||
Thick hair | + | + | + |
Thick eyebrows | + | + | + |
Thick eyelashes | + | + | + |
Orbital hypertelorism | − | + | − |
Down-slanting palpebral fissure | − | + | + |
Up-slanting palpebral fissure | − | − | − |
Nasal root abnormality | − | + | − |
Low set ears | − | − | + |
Abnormal ears | − | − | − |
Midface hypoplasia | + | + | + |
Wide mouth | + | + | + |
Long philtrum | − | − | − |
Upper lip vermilion feature | − | + | + |
Thick lower lip vermilion | − | + | + |
Palatal abnormality | − | − | − |
Skeletal–limb | |||
Transverse crease | + | + | + |
Clinodactyly | + | − | − |
Hypoplastic/absent fifth finger/toe | + | + | − |
Hypoplastic/absent nail (fifth finger/toe) | + | + | − |
Hypoplastic/absent nail (other fingers/toes) | − | − | − |
Broad thumb | − | + | + |
Prominent interphalangeal joints | − | − | − |
Prominent distal phalanges | − | − | − |
Scoliosis/spinal abnormalities | − | + | − |
Joint laxity | + | + | + |
Nervous system | |||
Developmental delay | + | + | + |
Seizures | − | + | − |
Speech delay | + | + | + |
Structural brain abnormalities | − | − | − |
Agenesis of corpus callosum | − | − | − |
Hypotonia | + | + | + |
Hypertonia | − | − | − |
Abnormal shape of head | + | + | + |
Growth restriction | + | + | + |
Microcephaly | − | − | − |
Others | |||
Hirsutism | − | + | + |
Congenital heart defects | − | − | − |
Genitourinary defects | − | − | − |
Gastrointestinal abnormalities | − | − | − |
Sucking difficulty | + | − | + |
Feeding difficulty | − | + | + |
Frequent vomiting | − | − | − |
Hearing impairment | − | + | − |
Visual impairment | − | − | − |
Recurrent infections | − | − | − |
Family information | |||
Siblings | One sister; normal | One brother; with attention deficit hyperactivity disorder | One brother; normal |
Family history | No | No | No |
Consanguineous marriage | No | No | No |