Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report

Table 1 The MRI findings, neuropsychological development score, genetic analysis report of BRPS infancy patients

The cerebral MRI findings
Age	cerebral sulcus widened	Cerebellar atrophy	Brainstem thinning	Corpus callosum thinning	Cortical atrophy (sulcal widening)	Ventricular dilation(0–3)	Subcortical white matter change	Periventricular white matter change	Myelination abnormality	Internal capsule change	Signal change consistent with focal infarct	Abnormal signal in basal ganglia	Other findings
8 months after birth	+	–	–	+	+	1	–	–	–	–	–	–	–
The examination table of neuropsychological development
Date	Big activity sport	Fine sport		Adaptive capacity		Language capacity	Social behavior		Development quotient
6 months after birth	48.4	40.3		56.5		48.4	32.3		45.2
8 months after birth	51.3	38.5		57.7		25.6	25.6		39.7
Genetic analysis report
Gene	Chromosomal location	Transcript number	exon	Nucleotide amino acid		• Homozygous/heterozygous	Normal frequency	Pathogenicity analysis	inheritance mode		Disease/phenotype		Source of variation
ASXL3	chr18:31323304–31,323,306	NM_030632	exon12	c.3493—3494 del (p.C1165fs)		het	_	pathogenic	AD		Bainbridge–Ropers syndrome		Spontaneity

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