Skip to main content

Table 3 Physical exam results (NE, not evaluated)

From: Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report

SystemII-1 (Proband)II-2 (8 yo male)II-3 (4 yo male)I-1 (39 yo male)Reported Frequency in 3q29 deletion syndrome
Growth    Short stature: 24%2
Weight kg (%tile)20.5 (3)21.4 (10)11.7 kg (< 3)77.4Microcephaly: 55%
Height cm (%tile)121 (3)126 (35)95.6 (3)165 
FOC cm (%tile)50.76 (35)49.5 (3)48.75 (10)54.5 
Facial dysmorphismMild
Poor dentition
Poor dentition
Poor dentition
MildDental conditions 66%3
Abnormal teeth: 20%2
Musculoskeletal abnormalitiesFlat feetNone notedSlight joint laxity, flat feetNone notedLigamentous laxity: 11%2
GIFeeding problems, inability to gain weight, fussy eater
Poor appetite
Good appetite but inability to gain weightGood appetite but inability to gain weightNone noted
Feeding problems: 41%3
Heart defectsnonenonenonenoneHeart Defects: 26%3
SkinCafé au lait spots (NF1) Translucent skinPsoriasisAbnormal skin pigmentation: 14%2
SleepNo difficulties reportedSleeps only ~ 3 h/nightNeeds little sleepDifficulty falling asleepNE
Other-Focal epilepsy
-Renal artery stenosis s/p stent/HTN
-Right eye wanders
-Gags often
-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