Table 2 Abnormal ultrasound findings in Jacobsen syndrome, SHFM and Cri du Chat sydnrome

Jacobsen

20 wks

Nuchal thickening (NT)

del(11)(q23)

McClelland, 1998 [22]

20 wks

Unilateral duplex renal system, pyelectasis, orofacial clefts.

del(11)(q23)

Chen, 2001 [23]

20 wks

Fetal biometry ~22 wks, short femurs and humeri, overlapping toes

del11)(q24.2)

Chen, 2004 (2 cases) [24]

18 wks

Unremarkable

del(11)(q24.1)

20 wks

Cerebral ventricular dilatation

del(11)(q23)

Bohem, 2006 [25]

28 wks

Hydronephrosis, hypoplastic lefft hear syndrome, 'keel-shaped' skull of trigonocepholy.

del(11)(q23)

Foley, 2007 [26]

24 wks

Single ventricle, single atrium, atrioventricular valve

del(11)(q24.1)

This report (case#2)

SHFM

12-15-19 wks

NT 1.0 mm, single digit hand, two-digit split-foot.

Unknown

Haak, 2001 [27]

11-16 wks

Irregular shaped hands with missing digits, clawlike feet.

Unknown

Ram, 2009 [28]

19 wks

Bilateral Cleft Lip/palate, median clefts of both hands and feet, oligodactyly.

c.598A>G TP63 gene

Simonazzi, 2012 [29]

15-29 wks

7 bilateral anomalies (3 both hands and foot, 2 only in hands and 2 only foot) and 3 unilateral anomalies in hands.

22q11.2 del, 7q31 del, 8 unknown

Lu, 2014 (10 cases) [30]

28 wks

Split hand/split foot, umbilical cord cysts.

del(7)(q11.23q21.3)

This report (case#3)

Cri du Chat

16 wks

Pleural effusion, ascites, skin edema, hypoplastic cerebellum, large ventricular septal defect, cystic lesion in nuchal skin edema.

5p-

Aoki, 1999 [31]

15+2 wks

Moderate biparietal cerebral ventriculomegaly

del(5)(p15)

Stefanou, 2002 [32]

19 wks

Boderline microcephaly

mos del(5)(p15.1)

Chen, 2004 [33]

18+6 wks

Encephalocele

del(5)(p13)

Bakkum 2005 [34]

21+3 wks

Absent nasal bone

del(5)(p15.1)

Sherer, 2006 [35]

13 wks

NT 1.6 mm, hypoplastic nasal bone (1.8 mm)

del(5)(p14)

Teoh, 2009 [36]

18 wks

Normal

del(5)(p15.33p15.33)

This report (case#5)