Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

MeSH terms

• Abnormalities, Multiple
• Agenesis of Corpus Callosum / diagnostic imaging
• Agenesis of Corpus Callosum / genetics
• Arthrogryposis / diagnostic imaging
• Arthrogryposis / genetics*
• Brain Stem / abnormalities
• Brain Stem / diagnostic imaging
• Cerebellum / abnormalities
• Cerebellum / diagnostic imaging
• Clubfoot / diagnostic imaging
• Clubfoot / genetics*
• Developmental Disabilities / diagnostic imaging
• Developmental Disabilities / genetics
• Eye Abnormalities / diagnostic imaging
• Eye Abnormalities / genetics*
• Female
• Frameshift Mutation
• Gestational Age
• Heart Defects, Congenital / diagnostic imaging
• Heart Defects, Congenital / genetics*
• Heterozygote
• Humans
• Hydrocephalus / diagnostic imaging
• Hydrocephalus / genetics
• Infant, Newborn
• Lissencephaly / diagnostic imaging
• Lissencephaly / genetics
• Magnetic Resonance Imaging
• Male
• Mutation, Missense
• Nervous System Malformations / diagnostic imaging
• Nervous System Malformations / genetics*
• Nuchal Translucency Measurement
• Pregnancy
• Proteins / genetics*
• Syndrome
• Ultrasonography, Prenatal