Table 3 Physical exam results (NE, not evaluated)
System | II-1 (Proband) | II-2 (8 yo male) | II-3 (4 yo male) | I-1 (39 yo male) | Reported Frequency in 3q29 deletion syndrome |
|---|---|---|---|---|---|
Growth | Â | Â | Â | Â | Short stature: 24%2 |
Weight kg (%tile) | 20.5 (3) | 21.4 (10) | 11.7 kg (< 3) | 77.4 | Microcephaly: 55% |
Height cm (%tile) | 121 (3) | 126 (35) | 95.6 (3) | 165 | Â |
FOC cm (%tile) | 50.76 (35) | 49.5 (3) | 48.75 (10) | 54.5 | Â |
Facial dysmorphism | Mild Poor dentition | Mild Poor dentition | Mild Poor dentition | Mild | Dental conditions 66%3 Abnormal teeth: 20%2 |
Musculoskeletal abnormalities | Flat feet | None noted | Slight joint laxity, flat feet | None noted | Ligamentous laxity: 11%2 |
GI | Feeding problems, inability to gain weight, fussy eater Poor appetite | Good appetite but inability to gain weight | Good appetite but inability to gain weight | None noted Reflux | Feeding problems: 41%3 |
Heart defects | none | none | none | none | Heart Defects: 26%3 |
Skin | Café au lait spots (NF1) |  | Translucent skin | Psoriasis | Abnormal skin pigmentation: 14%2 |
Sleep | No difficulties reported | Sleeps only ~ 3 h/night | Needs little sleep | Difficulty falling asleep | NE |
Other | -Focal epilepsy -Renal artery stenosis s/p stent/HTN -Right eye wanders -Gags often -Hypermobility | -Not completely toilet trained -Aversion to loud noises -Cold intolerance | -Not toilet trained -Inguinal hernia repair -Sensitive hearing (likes ear defenders) -Poor coordination -Heat/cold intolerance | -Migraines | -Seizures: 5%3 |