Table 1.

Genetic and clinical features of the patients included in this study and previous reports

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7	Patient 8
	Present case 3y, female	Devriendt et al., 1999 [ 5 ] 21y, male	Dunø et al., 2004 [ 6 ] 5y, female	Dunø et al., 2004 [ 6 ] 4y, male	Kosaki et al., 2005 [ 7 ] 1y, male	Jun et al., 2011 [ 3 ] 4y, male	Hosoki et al., 2012 [ 4 ] 13y, male	Fryssira et al., 2011 [ 8 ] 2y, male
Chromosomal deletion	7p15.2p14.3	7p15.3p14.2	7p15.3p14.3	7p15.2p14.2	7p15.2p21	7p15.3p15.1	7p15.3p15.1	7p21.1p14.3
Size (Mb)	2.5	12	9,8	9	NA	5,6	6,9	13
Inheritance	De novo	De novo	De novo	De novo	De novo	De novo	De novo	De novo
Neonatal feeding problem	Yes, due to GERD	Yes, due to velopharingeal insufficiency	NA	NA	NA	Yes, due to dysphagia	Yes	Yes, due to GERD
Developmental delay	Yes	No	Yes	Yes	Yes	Yes	Yes	Yes
Intellectual disability	No	Borderline IQ	Yes	Yes	Yes	Yes	No	Yes
Speech delay	Yes	No	Yes	Yes	Yes	Yes	Yes	Yes
Ear anomalies	Uplift of ear lobules, hyperplastic anti-helix	Low-set, malformed	NA	Short, slightly deformed	Prominent ear crus	Low-set, posterior angulated, mild EAM stenosis	Low-set, posterior rotated	Low-set, Helix hypoplasia, hyperplastic anti-helix and anti-tragus, prominent intertragic notch
Palpebral fissures	Short	Upslanted	Upslanted	Dowslanted	NA	Upslanted	No	Short, epicanthic folds, ptosis
Other facial anomalies	Frontal bossing, mild hypertelorism, wide nasal bridge, long philtrum, thin lips, micrognathia, short neck	Retrognathia, upturned nostrils, large mouth	Flat nasal bridge, broad nose, anteverted nostrils, broad lips	Broad neck	Depressed supraorbital ridge on the left, maxillary hypoplasia	Flat nasal bridge, frontal bossing	Bifrontal narrowing	Asymmetry, hypertelorism, low nasal bridge, anteverted nostrils, long and smooth philtrum, short neck
Small hands and feet	Small feet	NA	Yes	Yes	No	Yes	Yes	Yes
Clinodactyly	No	Yes	Yes	Yes	No	No	Yes	Yes
Other fingers anomalies	Hypoplasia of distal phalanges of thumbs and 2nd fingers	Pointed distal phalanx	Short fingers	Short fingers	Hypoplasia of 5th fingers	Limited extension	No	Digital webbing and abnormal hand creases
Great toe anomalies	No	Shortened, laterally deviated	Short and broad	NA	No	Hypoplasia	Curved and broad	Relatively long, broad and medially deviated
Other toes anomalies	Short toes	Triangular distal phalanx	NA	Short toes, pes planus	No	No	Short	Short
Genital anomalies	No	Cryptorchidism, ventral-bowed penis	NA	No	Rectoperineal fistula	Hypospadia	No	Hypospadia, left cryptorchidism and scrotum hypoplasia
Urinary anomalies	Bifid pelvis with left VUR	No	No	No	No	No	No	Moderate renal insufficiency
Velopharyn-geal anomalies	No	Yes	No	No	No	No	No	Yes
Heart malformations	No, only bradycardia and sporadic supraventricular extrasystoles	Patent ductus Botalli	No	No	Patent ductus arteriosus	Patent ductus arteriosus, partial pulmonary venous return	No	Open foramen ovale, aortic insufficiency
Other features	Desaturation episodes, GERD, stridor	No	No	Hypermetropia	Anal atresia, cranio-synostosis	Accessory nipples	No	Craniosynostosis, desaturation episodes (abnormal sleep EEG)

EAM: external acoustic meatus; GERD: gastroesophageal reflux; IQ: intelligence quotient; y: year-old; NA: not available; VUR: vesicoureteral reflux; EEG: electroencephalogram.