Central nervous system, n (%) 12/84 (14)
Dandy Walker 2
Septo-optic dysplasia 1
Perisylvian syndrome 2
Neuroblastoma 1
Choroid plexus papilloma 1
Other 5
Spinal cord, n (%) 19/84 (23)
Myelomeningocele 17
Spinal muscular atrophy-like (SMN negative) 1
Tethered cord 1
Muscle, n (%) 15/84 (18)
Distal arthrogryposis 6
Arthrogryposis multiplex 4
Congenital myotonic dystrophy 3
Congenital muscular dystrophy 2
Chromosomal abnormality, n (%) 10/84 (12)
Trisomy 18 2
Trisomy 21 1
Ring chromosome 18 1
Partial trisomy 4, monosomy X 1
Partial trisomy 1q and monosomy 10q 1
Partial trisomy 13q and monosomy 5p 1
22q11.2 deletion 2
Subtelomeric deletion 13q 1
Known genetic syndromes, n (%) 5/84 (6)
Costello syndrome 1
Carpenter syndrome 1
Toriello Carey syndrome 1
Osteogenesis imperfecta 1
X-linked chondrodysplasia punctata 1
Probable genetic syndrome, n (%) 19/84 (23)
Orthopedic n (%) (fibular hemimelia, polydactyly, hip dysplasia, ulnar longitudinal deficiency) 6/84 (7)
Multiple congenital anomaly 13/84 (15)
Amniotic band sequence, n (%) 4/84 (5)