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Table 2 Clinical finding of Pallister Killian patients

From: Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Case No 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15
Sex m f f f m f f f m m m m m m m
Age at diagnosis (days/months (m)/year) 7 7/12 10 8/12 6 8/12 12 10/12 9 m 7 1/12 2 11/12 8 m 1 day 5 10/12 22 days 11 m 1 day 1 11/12
Gestation age at bırth ‘term’ 38 37 40 39 ‘term’ ‘term’ 36 33 41 37 ‘term’ 40 32 38
Maternal/paternal age at conception 18/25 32/33 22/22 23/28 28/29 38/38 19/25 35/42 31/31 21/23 33/31 28/29 39/33 32/32 33/41
Weight/length at bırth 2100/? 3500/47 3500/50 2600/45 3450/54 4250/? 3250/? 2250/45 2500/44 4750/? 2950/49 3800/ 3200/53 2800/? 3830/53
Intellectual disability + + + + + + -(near norma) + ? + ? + ? + +
Seizures + + + +
Hypotonia + + + + + + + + +
Prominent forehead + + + + + + + + + + +
Bitemporal alopecia/sparse temporal hair + + + + + + + + + + + + + + +
Coarse facial features + + + + + + + + + + + + + + +
Flat occiput + +
Hypertelorism + + borderline + + + + + + + +
Epicanthus + +
Dysmorphic ears + + + + + + + + + + + +
Short nose + + + + + + + + + + +
Anteverted nostrils + + + + + + + + + + + + + +
Long philtrum + + + + + + + + + + + +
Macroglossia + +  
Micrognathia + + + + +
Everted lower lip + + + + + + + + + + + + + + +
Short neck + + + + + + + + + +
Accessory nipples + +
Hypo/hyperpigmented areas of skın +/+ +/+ +/+ +/+ +/+ +/+ +/+ +/+ −/− +/+ −/− +/+ +/+ +/+ −/−
Short hands and feet + + + + + + + + + +
CHD PDA,PFO,VSD PDA PFO, PDA   ASD
  1. Abbr: CHD congenital heart defect, PDA patent ductus arteriosus, PF O patent foramen ovale, VSD ventricular septal defect, ASD atrial septal defect