Missed diagnosis of a rare syndrome of congenital heart defects,dysmorphic facial features,and intellectual developmental disorders in clinical practice
LIANG Rujia
LIU Jun
XU Yu
DU Zhifang
ZHOU Yi
LIU Fang
Abstract：Objective To analyze the clinical manifestations and diagnostic points of a rare syndrome of congenital heart defects,dysmorphic facial features and intellectual developmental disorder(CHDFIDD),and to summarize the causes of misdiagnosis and preventive measures.Methods Clinical data of one child admitted in May 2023,initially misdiagnosed with global developmental delay and finally confirmed as CHDFIDD,were retrospectively analyzed.Results A female patient,aged 2 years and 11 months,was previously diagnosed with global developmental delay affecting motor,language,and social skills at another hospital,where rehabilitation therapy was recommended.Physical examination upon admission to our hospital revealed microcephaly,a receding hairline,hypertelorism,ptosis,epicanthal folds,short philtrum,flat nasal bridge,posteriorly rotated and low-set ears,microstomia,and bilateral fifth-finger clinodactyly,along with generalized hypotonia.Cardiac ultrasound indicated an atrial septal defect.Assessment using the China Developmental Scale for Children(CDCC)revealed delays in motor,language,and social development.Trio of whole-exome sequencing of the proband and both parents revealed a de novo heterozygous variant in the CDK13 gene.According to the standards set by the American College of Medical Genetics and Genomics(ACMG),this variant was classified as likely pathogenic.Subsequent bioinformatics analyses of the variant further supported its pathogenicity.Based on the patient's clinical manifestations,genetic sequencing results,and bioinformatics analysis,the patient was diagnosed with CHDFIDD.After six months of rehabilitation treatment,the patient showed improvements in motor and social abilities,but no significant improvement in language ability.Conclusion When clinicians encounter developmental delays in motor,social,and language functions,accompanied by characteristic facial features and cardiac developmental abnormalities,the possibility of CHDFIDD should be considered.If clinicians have insufficient knowledge of this disease,misdiagnosis is likely to occur.Strengthening clinicians'understanding of CHDFIDD,carefully inquiring about the medical history,broadening diagnostic thinking,and conducting whole-exome sequencing when necessary to confirm the diagnosis can reduce or avoid early misdiagnosis of CHDFIDD.
Keywords：congenital heart defectsdysmorphic facial features and intellectual developmental disorderchildrenmissed diagnosiswhole-exome sequencingCDK13 genedifferential diagnosis
Publication Date：2025-12-13
Online Publishing Date：2025-12-25(First online date of this platform, not the publication date of the document)
Pages：7( 1-7 )