Table 1.

Clinical data of our six patients.

	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.