Table 1 Clinical and morphological data of presented cases

Maternal age

21

32

33

n.d.

n.d.

27

n.d.

Gravida/Para

2 / 2

(1 healthy son)

2 / 2

2 / 1 healthy daughter

(2^nd pregnancy by ICSI)

n.d.

n.d.

2 / 1 healthy son

n.d.

Parental ethnicity

German

German

Turkish

no consanguinity

Austrian

Austrian

German

Austrian

Family history maternal/paternal

polydactyly, dizygous twins / dizygous twins

inconspicious

inconspicious

n.d.

n.d.

inconspicious

n.d.

Prenatal diagnosis

X-ray: craniorachischisis

US: polyhydramnios, hydrocephaly

US: hydrocephaly, diprosopus, DH

n.d.

n.d.

US: cephalothoraco-pagous Janiceps twins

n.d.

Gestational week

35/stillborn

39

18 + 4

 ~ 36

Near term

34

Near term

Weight / length

1200 g/32 cm

3350 g/55 cm

267 g/24 cm

? / 35 cm

? / 42 cm

1072 g / 35 cm

n.d.

Karyotype / Sex

female

female

46,XX / female

female

Male

female

Male

Cranio-/Rachischisis

 + / C1-L2

−/−

−/−

 + / + 

−/ + 

−/−

−/ + 

Diprosopus

 + 

 + 

Discordant cebocephaly

 + 

 + 

 + 

 + Janus type

 + / cc cyclopia, parasitic twins

No. of eyes

3 orbits, 4 eyebulbs

4 orbits, 3 eyebulbs,

hypotelorism of right face

 + right-sided crypt-ophthalmus of left face

3 orbits, 4 eyebulbs,

microphthalmia of medial eyebulbs

4 orbits,

4 eyebulbs

3 orbits, 4 eyebulbs,

4 orbits

4 eyebulbs

2 orbits

4 eyebulbs

No. of noses

2

2

single nostril right nose +

absent right nasal wing left nose

2

2

2

2

2

No. of mouths / oral cavities / tongues

2 / 2 / 2 dorsally fused,

Single LA/TR/ESO

2 / 2 / 2 dorsally fused,

Single LA/TR/ESO

2 / 2 / 2 dorsally fused,

Single LA/TR/ESO

2 / n.d. / n.d.

2 / n.d. / n.d.

2 / 2 / 2 dorsally fused

2LA/2TR/single ESO

2 / n.d. / n.d.

No. of ears

2 + single interfacial

ear dimple

2 + single

Interfacial ear dimple

2 + single

Interfacial ear dimple

2 + single

Interfacial ear dimple

2 + single

Interfacial ear dimple

4

4

Cleft (lip) palate (C(L)P)

cc contralateral CLP

CP right face + unilateral

CLP left face

-

dc unilateral CLP right face

cc contralateral CLP

 − 

 − 

Cerebral duplication

?

 + 

 + 

?

n.d.

 + 

n.d.

Cerebellar duplication

?

 − 

 − 

?

n.d.

 + 

n.d.

Cerebral malformation

Anencephaly,

Craniorachischisis

Hydrocephaly + HPE, lobar right, alobar left brain + sphenoidal MEC

Dandy-Walker cyst,

Vermis hypoplasia,

Clival MEC

Exencephaly,

Craniorachischisis

Hydrocephaly

cc opposite right-angled outward rotation of frontal lobes

n.d

HPE suspected

Facial bones

(Part.) Dup frontal, orbi-tal, temporal, mandi-bular + maxillary bones

(Part.) Dup. frontal, orbital, temporal, mandibular + maxillary bones

(Part.) Dup. frontal, nasal, orbital, temporal, mandibular + maxillary bones

(Part.) Dup nasal, orbital, mandibular + maxillary bones, fused medial ZP

(Part.) Dup. of facial bones, no fusion of ZP

Duplicated

n.d.

Skull base

(Part.) Dup. of fossa ant. + ethmoidal + sphe-noidal bones, sep. PF

(Part.) Dupl. of fossa ant. + sphenoidal bones + fusion of PF

(Part.) Dup. of fossa ant., ethmoidal + sphenoidal bones, separate PF

Medially incompl. dup. of skull base, separate PF,

2 foramina magna

(Part.) Dup. of fossa ant., ethmoidal + sphenoidal bones,

cc opposite right-angled outward rotation of anterior fossae halves

n.d.

Duplic. of vertebral bodies

 + 

C1—L2

C1-TH6

C1-L5

C1—L5

n.d

n.d.

Associated malformations

TOF + DH + SUA

dc cebocephaly + low set VSD

ASD2 + DH

n.d.

n.d.

SGIT/OC/cc CHD/dc DH

dc AA/SB/OC/single UC in the autosite