. 2014 Mar 20;7:23. doi: 10.1186/1755-8166-7-23

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)	97^th	90^th	97^th	50-75^th
Height (percentile)	75^th-90^th	95^th	99^th	10-25^th
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 4^th and 5^th 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 (75^th-90^th percentile)	NR	Birth weight 3430 g (50-85^th 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

OFC, occipital frontal circumference; NR, not reported; NA, not assessed; FSIQ, full scale intelligence quotient; VIQ, verbal intelligence quotient; PIQ, performance intelligence quotient; ADHD, attention deficit hyperactivity disorder; EEG, electroencephalography. Square brackets used to highlight ascertainment feature.