Table 1 Summary of clinical findings in our patient with typical 18q- deletion syndrome phenotype
Clinical features | Occurrence |
|---|---|
Dysmorphic craniofacial features | |
Midface hypoplasia | − |
Up/downward slanting palpebral fissures | − |
Dysplastic ears | − |
Flat philtrum | − |
Down-turned corners of mouth | − |
Prognathism | − |
High or cleft lip/palate | + |
Flat nasal bridge | − |
Limbs | |
Tapered fingers | − |
Proximal thumbs | − |
Increased whorls on fingers | − |
Abnormal toes | − |
Club feet | + |
Genitourinary | |
Hypoplasia of labia/scrotum | − |
Central nervous system | |
Hypotonia | − |
Seizures | − |
Hearing loss | + |
Strabismus | − |
Poor coordination | − |
Nystagmus | − |
Developmental delay | + |
Intellectual disability (formerly known as mental retardation) | + |
Delayed myelination | − |
Enlarged ventricles | − |
Respiratory | |
Recurrent respiratory infections | + |
Endocrine features | |
Growth hormone deficiency | − |
Immunology | |
Low levels of immunoglobulin A | + |