Table 1.
Patient 1 (ML) | Patient 2 (BI) | Patient 3 (MK) | Patient 4 (SS) | Patient 5 (HJ) | Patient 6 (TB) | |
---|---|---|---|---|---|---|
Birth weight; birth length | 2200 gr; 45 cm | 2800 gr; 49 cm | 2350 gr; 47 cm | 2040 gr; 43 cm | 1660 gr; 40 cm | 2900 gr; 49 cm |
Poor postnatal adaptation | [+++] | [+++] | [+] | [++] | [+++] | [+] |
Growth retardation | [+++] | [+] | [+++] | [++] | [++] | [++] |
Developmental milestones | [+++] | [++] | [+++] | [++] | [+] | [++] |
Feeding difficulties | [+++] | [++] | [+++] | [+] | [+] | [+] |
Microcephaly | −3 SDS | −2.5 SDS | −2.5 SDS | −2 SDS | −2 SDS | −2 SDS |
Phenotype | [+++] | [+++] | [+++] | [++] | [+] | suggestive |
Greek-helmet appearance | [+++] | [+++] | [+++] | [++] | [++] | [+] |
Ptosis of the palpebrae | [+++] | [++] | [+] | [+] | [+] | − |
Strabismus | [++] | [++] | [+] | iris coloboma | − | − |
Narrow palpebral fissures | [+++] | [+++] | [+] | − | [+] | [++] |
Hypertelorism | [+++] | [+++] | [++] | [++] | [+] | − |
Bat-like ears | [++] | [+] | [+++] | [++] | [+] | − |
Broad nose | [+++] | [+++] | [++] | [+] | [+] | − |
Short philtrum | [+++] | − | [++] | [+++] | [+] | [+] |
Down-turned mouth | [+++] | [++] | [+] | [++] | [++] | [+] |
Micrognathia | [++] | [+] | [++] | [+] | [+] | [+] |
Cleft lip/palate | − | notch of the lower lip | [++] | [+] | ||
Renal abnormalities | absent left; hypoplastic right | − | − | hypoplastic | − | − |
Cardiac anomalies | ASD | ASD; dilated ascendant aorta | ASD | ASD | FO, DAP; AP ommunications | − |
CNS anomalies | global atrophy | minor hyrocephaly | global atrophy | large third ventricle | atrophy of frontal cotex | − |
Seizures | [+] | ? | [+] | [+] | abnormal EEG | [+] |
Sacral dimple | [++] | [+] | [+++] | [+] | [+] | − |
Skeletal abnormalities | mesomelia | club feet | − | short thorax | club feet | halux varus, sandal gap |
Genital abnormalities | hypospadia | hypoplastic labia | − | hypoplastic labia | hypospadia cryptorchidism | cryptorchidism |
Other | intestinal malrotation | umbilical hernia; bifid tongue | − | sparse hair | − | − |
Karyotype | 46,XY,del(4) (p15.3) | 46,XX,del(4) (P16.2) | 46,XX,del(4) (P16.1) | 46,XX,ish del(4) (p16.3) | 46,XY,ish del(4) (p16.3) | 46,XY,del(4) (p16.1)[30%]/46,XY[70%] |
ASD: atrial septal defect; CNS: central nervous system.