PURPOSE: Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. MATERIALS AND METHODS: Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. RESULTS: All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. CONCLUSION: Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.
Abnormalities, Multiple ; Child ; Chromosome Aberrations ; Cytogenetic Analysis ; Cytogenetics ; Face ; Fingers ; Genetic Counseling ; Heart Defects, Congenital ; Hematologic Diseases ; Hip Dislocation ; Humans ; Intellectual Disability ; Joint Instability ; Karyotyping ; Medical Records ; Muscle Hypotonia ; Natural History ; Retrospective Studies ; Strabismus ; Vestibular Diseases

Long QT syndrome(LQTS) is characterized by prolongation of the QT interval, frequent episodes of syncope, and ventricular tachycardia leading to sudden cardiac death in adolescents and young adults. Early diagnosis and prompt treatment to reduce the risk of life-threatening cardiac events is crucial, however sudden onset convulsive syncope may be misdiagnosed as epilepsy and lead to antiepileptic drug therapy for many years. We experienced a case of six-year-old boy who were having seizure triggered by exercise and being treated with antiepileptic drugs. He had normal EEG and brain MRI but his ECG revealed prolonged QT interval(QTc=477 ms) and treadmill test induced polymorphic ventricular tachycardia. After applying beta-blocker, he had no more seizure attacks. We report a case of long QT syndrome misdiagnosed as epilepsy with a brief review of related literatures.
Adolescent ; Anticonvulsants ; Brain ; Death, Sudden, Cardiac ; Early Diagnosis ; Electrocardiography ; Electroencephalography ; Epilepsy ; Exercise Test ; Humans ; Long QT Syndrome ; Seizures ; Syncope ; Tachycardia, Ventricular ; Young Adult

A 9-year-old Korean boy with lissencephaly was found dead at home. He had previously been diagnosed with lissencephaly that presented with infantile spasm on the basis of magnetic resonance imaging and electroencephalogram results. Antemortem chromosomal banding revealed a normal karyotype. A legal autopsy was requested to eliminate the possibility of neglect or abuse by his parents. The autopsy findings revealed type I lissencephaly with the associated microcephaly. No external wounds or decubitus ulcers were noted. Postmortem fluorescence in situ hybridization for the LIS1 locus and nucleotide sequence analysis of the whole coding regions of the LIS1 gene did not reveal any deletions. The antemortem and postmortem findings revealed that lissencephaly syndrome was associated with isolated lissencephaly sequence. External causes of death were excluded by the full autopsy and toxicology test results. Because patients with mental retardation are frequently victimized and suffer neglect or abuse, thorough external and internal examinations should be conducted at the time of autopsy.
Autopsy ; Base Sequence ; Cause of Death ; Child ; Child Abuse ; Classical Lissencephalies and Subcortical Band Heterotopias ; Clinical Coding ; Electroencephalography ; Fluorescence ; Forensic Pathology ; Humans ; In Situ Hybridization ; Infant ; Infant, Newborn ; Intellectual Disability ; Karyotype ; Lissencephaly ; Magnetic Resonance Imaging ; Microcephaly ; Parents ; Pressure Ulcer ; Spasms, Infantile ; Toxicology

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.
Anal Canal ; Animals ; Anus, Imperforate ; Cats ; Diagnosis, Differential ; Ear ; Embryonic Development ; Eye Abnormalities ; Family Characteristics ; Female ; Goldenhar Syndrome ; Hearing Loss, Sensorineural ; Humans ; Mothers ; Physical Examination ; Polydactyly ; Pregnancy ; Thumb ; Transcription Factors

This study assessed main pulmonary artery diameter of patients with anthracofibrosis. Patients with anthracofibrosis and CT scans were evaluated after exclusion of patients with co-existing disease. We measured the diameter of the main pulmonary artery (PAD) and ascending aorta (AD) and calculated the pulmonary artery to aorta ratio (APR). The upper reference limit for comparison of PAD was 29 mm. Cut-off values for PAD and APR indicating pulmonary hypertension were 33 mm and 1. We correlated the CT parameters with echocardiographic results. Total 51 patients were included in the analysis. The mean PAD, AD, and APR were 33 mm, 38 mm, and 0.87 respectively. The PAD was larger than the upper reference limit, 29 mm (P<0.001). The PAD was >33 mm in 30 (65%) and the APR was >1 in 9 patients (18%). Of 21 patients with echocardiography, 11 (52%) were found to have pulmonary hypertension. There was no statistical difference in the diagnosis of pulmonary hypertension between echocardiography and CT (P=1.000). In conclusion, main pulmonary artery is dilated in patients with anthracofibrosis more than in the healthy population.
Aged ; Aged, 80 and over ; Aorta, Thoracic/*radiography ; Bronchi/pathology ; Bronchoscopy ; Dilatation ; Female ; Fibrosis ; Humans ; Hypertension, Pulmonary/*diagnosis/ultrasonography ; Male ; Pulmonary Artery/*radiography ; Tomography, X-Ray Computed

No abstract available.

No abstract available.
Nipples*

Forty eight female Sprague-Dawley rats received a subcutaneous implant containing 12.5 mg estradiol ant the age of 3 weeks. Three rats were killed in 1, 2, 3, 4, 6 weeks and in every month during 2~12 months after implantation, and the breasts were examined by light microscope. In all rats, enlargement of terminal end buds was obseved in 1~2 weeks, maximum development of hyperplastic alveolar nodules in 3 weeks, and marked dilatation and secretion of alveoli or ducts in 1~12 months after implantation. Ductal epithelial hyperplasia was observed in 27 rats and carcinomas developed in 23 rats in 2~12 months after implantation. It was thought that the changes induced by estradiol are more similar to the human breast lesions, compared with changes induced by chemical carcinogens such as dimethylbenzanthracene(DMBA), because breast carcinomas developed in close relationship with ductal epithelial hyperplasia in both estradiol-treated rats and humans, but not in DMBA-treated rats.
Female ; Humans ; Rats ; Animals ; Carcinogens

No abstract available.
Hyperhidrosis* ; Thoracotomy*