Table 2

Diagnosis in the 17 children with complex malformations

No
1 Monogenic syndromes
 (1) Coffin-Siris syndrome (perinatal death) (MIM 135900)1
 (2) Fryns syndrome (perinatal death) (MIM 229850)1
 (3) Microcephalia vera (MIM 251200)2
 (4) Bartter syndrome (MIM 600359)1
 (5) Wiedemann-Beckwith syndrome (MIM 130650)1
 Total6
2 Chromosomal syndromes
 (1) 46,XY/46,XY,del(16)(q11→qter)1
 (2) 22q11 deletion (velocardiofacial syndrome) with tetralogy of Fallot1
 Total2
3 MCA/MR syndromes/sequences
 (1) Pierre-Robin sequence2
 (2) Spastic diplegia-adducted thumbs1
 (3) MCA syndrome with pre- and postnatal growth retardation, body asymmetry, renal malformation, conductive deafness1
 (4) MCA/MR syndrome with macrocephaly, ventriculomegaly, VSD12-150
 (5) MCA/MR syndrome with microbrachycephaly, facial dysmorphism, ASD, VSD1
 (6) MCA/MR syndrome with complex cardiopathy, facial dysmorphism, pre- and postnatal growth retardation (died at 1 year)1
 (7) MCA/MR syndrome with facial dysmorphism/AVSD1
 (8) MCA/MR syndrome with pre- and postnatal growth retardation, VSD, hypospadias grade 31
 Total9
Total17 (1.95%)
  • 2-150 Same malformation complex in deceased sister.