Table 2

Diagnosis in the 23 children with complex malformations (1.28%)

No
*Same neurological syndrome in sister and brother.
(A) Monogenic syndromes
(1) Fragile X syndrome (OMIM 309550)1
(2) Sturge-Weber syndrome (OMIM 185300)1
(3) Tuberous sclerosis (OMIM 191100)1
(4) Beckwith-Wiedemann syndrome (OMIM 13 650)1
(5) Apert-acrocephalosyndactyly type I (OMIM 101200)1
(6) Menkes syndrome (OMIM 309400)1
(7) Kartagener syndrome (OMIM 244400)1
(8) Poland syndrome with left cleft hand (OMIM 173800)1
(9) Cystic fibrosis (OMIM 219700)1
(10) Fumoryl acetoacetase deficiency (OMIM 276700) with Dandy-Walker malformation/arachnoidal cyst1
(11) X linked agammaglobulinaemia (OMIM 300300)1
(12) Rett syndrome (OMIM 312750)1
(B) MCA/MR syndromes – sequences
(1) MCA/MR syndrome with cardiopathy (VSD), bilateral pes equinovarus, facial dysmorphism, congenital torticollis1
(2) VACTERL association with radial hypoplasia, asymmetrical scapulae, left kidney dysplasia, vertebral anomaly (S3), low implanted thumbs1
(3) Infant with lethargy, thrombocytopenia, anaemia, and fatty liver, medium-long chain acyl Co a dehydrogenase deficiency not confirmed1
(4) Congenital diaphragmatic hernia (CDH) (right) with cystic renal dysplasia1
(5) MCA/MR syndrome with craniosynostosis-cerebellar cyst-hydrocephalus1
(6) Holoprosencephaly sequence with hypotelorism, median cleft lip and cleft palate1
(7) Pierre-Robin sequence1
(8) MR syndrome with olivopontocerebellar atrophy1
(9) Progressive encephalopathy*1
(10) MCA syndrome with agenesis of the corpus callosum, bilateral cleft lip, and clenched hands1
(11) MR syndrome with cardiopathy (truncus arteriosus) and facial dysmorphism1