Patient 1 | Patient 2 | Patient 3 | |
---|---|---|---|
Decipher ID | N/A | N/A | 275504 |
Gender | F | F | M |
Age at last evaluation | 29 years | 68 years | 14 years |
Measurements at last evaluation | L: 166 cm (−0.25 SD) | L: 163 cm (−0.75 SD) | L: 175 cm (+1 SD) W: 60 kg (+0.8 SD) OFC: 58 cm (+2 SD) |
CTNND2 mutation | Translocation breakpoint | Translocation breakpoint | Deletion of exons 12–18; out of frame (hg19) |
Inheritance | Maternal | No information | Maternal (mother mosaic) |
Weeks of gestation | Term | No information | Term |
Birth measurements | BW: 3520 g (M) BL: 52 cm (+1 SD) | No information | No information |
Facial features | None | None | Long and narrow face with flat malar regions Telecanthus Down-slanted palpebral fissures Bilateral ptosis Mildly everted lower eyelids Microretrognathia Large and beaked nose with deviated septum Small mouth with prominent lower lip High palate Crowded teeth |
Developmental milestones | Normal motor milestones. Late language development. Speech therapy was started at 3 years of age. | Normal motor milestones. | No information |
IQ | 13 years of school (went to special class grades 4–9). Self-reported difficulties with reading. WISC-III at age 17 years gave an uneven profile with the verbal result age appropriate and the non-verbal well below average (at the level of a 9-year-old). | Spent 2 years in 4th grade and 3 years in high school. Self-reported difficulties with reading. Good at learning to speak new languages | Mild intellectual disability. Mainstream school from age 11–14 years with need of personal assistant. Self reported difficulties with reading. Learned to speak Swedish fluently after moving to Sweden at age 11 years. WISC-IV at age 14 years 10 m gave an uneven profile with the lowest performance on non-verbal tests (at the level of an 8.5 year-old). |
Occupation | At age 29 years, she works as a nanny at a day care centre, and plans to go back to university to become a preschool teacher. | Retired. Worked for 40 years as a receptionist and handling of the cash register. | N/A |
Neurological manifestations | Attention deficit | None | Pervasive developmental disorder with difficulties with social-emotional behaviour and impulse control. Does not fulfil criteria for autism or autism spectrum disorder. |
MRI | N/A | N/A | Normal |
Other features | Myopia (−3.75/−4; Glasses from grade one) Normal body proportions | Myopia (−1.5/−1.5) Normal body proportions | Myopia Marfanoid habitus Broad hands with prominent metacarpo-phalangeal joints Proximal inserted thumbs Long fingers with joint laxity Hyperextended proximal interphalangeal joints Camptodactyly of distal interphalangeal joints Broad feet with short and broad big toes |
BL, birth length; BW, birth weight; L, length; OFC, occipital frontal circumference; W, weight; WISC, Wechsler Intelligence Scale for children.