The study reports a case of a 5-year-old Chinese girl diagnosed with Kabuki make-up Syndrome(KMS).The patient showed classic KMS appearance:widely separated eyes,ectropion of lateral one-third lower eyelids,flat nasal...The study reports a case of a 5-year-old Chinese girl diagnosed with Kabuki make-up Syndrome(KMS).The patient showed classic KMS appearance:widely separated eyes,ectropion of lateral one-third lower eyelids,flat nasal tip,and prominent ears.Auditory features in this individual included bilateral severe sensorineural hearing loss and lack of 40 Hz AERP responses identified at I year of age.The individual received cochlear implant(CI) in the left ear when 5 years old.and rehabilitation after CI treatment were 3 in speech intelligibility and 5 in auditory performance.Thus,our findings suggest that cochlear implant may be helpful to restore hearing for individuals with Kabuki syndrome.展开更多
Background:Patients with genetic syndromes who undergo surgery to correct congenital heart defects can be at risk for increased morbidity or mortality.Surgical outcomes and postoperative courses following congenital h...Background:Patients with genetic syndromes who undergo surgery to correct congenital heart defects can be at risk for increased morbidity or mortality.Surgical outcomes and postoperative courses following congenital heart surgery in patients with Kabuki-Syndrome(KS)have not been well studied.Objectives:The purpose of this study was to describe the postoperative courses and associated outcomes in the largest set of KS patients undergoing congenital heart surgery to date.Methods:Patients with a confirmed molecular diagnosis of KS and a diagnosis of a CHD admitted to Texas Children’s Hospital between January 1,2000 and January 1,2020 were included(n=20).Demographics and medical histories were collected from the hospitals’electronic health records.Results:Of 20 patients identified with KS and a CHD,15 required surgical correction of their congenital cardiac malformation.Median age and weight at the time of surgery was 2 months and 4.1 kg,respectively.Median duration of hospital stay was 49 days for all surgeries and 151 days for the Norwood procedure.Postoperative infections and pleural effusions were detected and treated in 45.8%and 50%of patients,respectively.There was no in-hospital mortality for any surgery.Median follow up time was 5.6 years;survival at 6 years was 94%.Conclusions:Although KS patients seem to be at increased risk for a more complicated,prolonged postoperative course than that of patients without a genetic syndrome,patients with a diagnosis of a CHD and KS do not appear to be at increased risk of mortality following congenital heart surgery.展开更多
BACKGROUND Kabuki syndrome(KS)is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder.KMT2D and KDM6A mutations were identified as the main causative genes in KS patients.There ...BACKGROUND Kabuki syndrome(KS)is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder.KMT2D and KDM6A mutations were identified as the main causative genes in KS patients.There are few case reports and genetic analyses,especially of KDM6A gene mutation,in China.CASE SUMMARY This study reports a de novo KDM6A mutation in a Chinese infant with KS.A 2-month-old Chinese baby was diagnosed with KS,which manifested as hypoglycemia,congenital anal atresia at birth,feeding difficulties,hypotonia,and serious postnatal growth retardation.He died of recurrent respiratory infections at age 13 mo.DNA sequencing of his blood DNA revealed a novel KDM6A frameshift mutation(c.704_705delAG,p.N236Sfs*26)(GRCh37/hg19).CONCLUSION We present a Chinese KS patient with a novel KDM6A frameshift mutation(c.704_705delAG,p.N236Sfs*26)(GRCh37/hg19),broadening the mutation spectrum.展开更多
文摘The study reports a case of a 5-year-old Chinese girl diagnosed with Kabuki make-up Syndrome(KMS).The patient showed classic KMS appearance:widely separated eyes,ectropion of lateral one-third lower eyelids,flat nasal tip,and prominent ears.Auditory features in this individual included bilateral severe sensorineural hearing loss and lack of 40 Hz AERP responses identified at I year of age.The individual received cochlear implant(CI) in the left ear when 5 years old.and rehabilitation after CI treatment were 3 in speech intelligibility and 5 in auditory performance.Thus,our findings suggest that cochlear implant may be helpful to restore hearing for individuals with Kabuki syndrome.
文摘Background:Patients with genetic syndromes who undergo surgery to correct congenital heart defects can be at risk for increased morbidity or mortality.Surgical outcomes and postoperative courses following congenital heart surgery in patients with Kabuki-Syndrome(KS)have not been well studied.Objectives:The purpose of this study was to describe the postoperative courses and associated outcomes in the largest set of KS patients undergoing congenital heart surgery to date.Methods:Patients with a confirmed molecular diagnosis of KS and a diagnosis of a CHD admitted to Texas Children’s Hospital between January 1,2000 and January 1,2020 were included(n=20).Demographics and medical histories were collected from the hospitals’electronic health records.Results:Of 20 patients identified with KS and a CHD,15 required surgical correction of their congenital cardiac malformation.Median age and weight at the time of surgery was 2 months and 4.1 kg,respectively.Median duration of hospital stay was 49 days for all surgeries and 151 days for the Norwood procedure.Postoperative infections and pleural effusions were detected and treated in 45.8%and 50%of patients,respectively.There was no in-hospital mortality for any surgery.Median follow up time was 5.6 years;survival at 6 years was 94%.Conclusions:Although KS patients seem to be at increased risk for a more complicated,prolonged postoperative course than that of patients without a genetic syndrome,patients with a diagnosis of a CHD and KS do not appear to be at increased risk of mortality following congenital heart surgery.
文摘BACKGROUND Kabuki syndrome(KS)is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder.KMT2D and KDM6A mutations were identified as the main causative genes in KS patients.There are few case reports and genetic analyses,especially of KDM6A gene mutation,in China.CASE SUMMARY This study reports a de novo KDM6A mutation in a Chinese infant with KS.A 2-month-old Chinese baby was diagnosed with KS,which manifested as hypoglycemia,congenital anal atresia at birth,feeding difficulties,hypotonia,and serious postnatal growth retardation.He died of recurrent respiratory infections at age 13 mo.DNA sequencing of his blood DNA revealed a novel KDM6A frameshift mutation(c.704_705delAG,p.N236Sfs*26)(GRCh37/hg19).CONCLUSION We present a Chinese KS patient with a novel KDM6A frameshift mutation(c.704_705delAG,p.N236Sfs*26)(GRCh37/hg19),broadening the mutation spectrum.
