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 | – |