Table 1 Clinical features of four adults with 3q13.31 deletions
Current report | Molin et al. Case 1 | Molin et al. Case 8 | Shuvarikov et al. Case 6 | |
|---|---|---|---|---|
Age (years) | 41 | 19.5 | 18 | 42 |
Sex | Male | Male | Male | Female |
Ethnicity | European | NR | NR | NR |
OFC (percentile) | 97th | 90th | 97th | 50-75th |
Height (percentile) | 75th-90th | 95th | 99th | 10-25th |
Weight (category) | Overweight | NR | NR | Obese |
Neurocognitive | Borderline intellectual disability (VIQ 90, PIQ 62) | [Developmental delay] | [Severe intellectual disability] (FSIQ < 50) | [Borderline intellectual disability] (VIQ 94, PIQ 61) |
Speech delay | Yes | No | Yes | Yes |
Neuropsychiatric | [Schizophrenia], aggressive behaviour | ADHD | ADHD, some repetitive behaviours | Social and emotional immaturity |
Neurologic | Delayed motor development, focal hypoplasia of the superior cerebellar vermis (15 y), enuresis | Hypotonia | Hypotonia | Cerebellar agenesis, EEG abnormalities, hypotonia, enuresis |
Musculoskeletal | Bilateral L5-S1 disc protrusion, slight kyphosis | Kyphosis | NR | NR |
Genitalia | NA | Small testes (8 ml) | Normal | Small introitus |
Craniofacial | Broad neck, facial asymmetry, strabismus, narrow palpebral fissures, long philtrum, narrow high arched palate, flat occiput, frontal and occipital hair whorls (Figure 1) | Dolichocephaly, prominent broad forehead, strabismus, myopia, ptosis, antimongoloid slant, short philtrum, high arched palate, large ears, crowded teeth, soft enamel | Prominent/broad forehead, high arched palate, large fleshy ears, pointed chin | Absent eyebrows, epicanthal folds, down slanting palpebral fissures, ptosis, high palate, nystagmus, microstomia, small teeth, large palatine tori |
Hands and feet | Cubitus valgus, bilateral short 4th and 5th metacarpals, narrow feet with mild bilateral clinodactyly and camptodactyly of toes | Small hands, long fingers | Tapering fingers | Pes cavus, middle finger clinodactyly bilaterally |
Pregnancy and birth | Uneventful pregnancy, birth weight 3941 g (75th-90th percentile) | NR | Birth weight 3430 g (50-85th percentile) | Placental calcifications, marginally small for dates |
Other | Insulin dependent Type 2 diabetes mellitus, hypercholesterolemia, hypocalcemia, hypertension | NR | NR | Large angioma in right shoulder, dorsocervical fat pad |