Early diagnosis and treatment of congenital dislocation of the hip is the only means of obtaining good results with consistent regularity. But a large number of congenital dislocation of the hip remain undiagnosed before the child begins to walk. One hundred and nine cases of congenital dislocation of the hip had been clinically diagnosed and 48 cases of them were treated conservatively or operatively at Department of Orthopedic Surgery, College of Medicine, Seoul National University from January, 1965 through September, 1975 with following results. 1. Among 109 cases of congenital dislocation of the hip, 48 cases were admitted and treated. In recent 10 years the number of the out-patient was increasing. 2. The preponderance of female to male (4:1) was found. 3. The age ranged between 3 months and 24 years, and 46 cases (42%) between 12 and 24 months. 4. In most cases the chief complaint was limping. 5. The associated congenital anomalies were observed in 3 cases of the series, comprising two cases of arthrogryposis multiplex congenita and one case of hydrocephalus. 6. The scetabular index was increased in affected hip. 7. The ratio of unilateral cases to bilateral ones was 100: 9, and right to left was 47: 53. 8. Closed reduction was satisfactory in 25 cases under 2 years of age. 9. Open reduction was necessary in 18 cases of failed closed reduction and 5 cases of redislocation. 10. Eleven cases of Salter's operation, 4 cases of Pembertons operation, 2 cases of Colonnas operation, and 8 cases of derotational osteotomy were performed to increase the stability of the hip joint.
Arthrogryposis ; Child ; Dislocations ; Early Diagnosis ; Female ; Hip Joint ; Hip ; Humans ; Hydrocephalus ; Male ; Orthopedics ; Osteotomy ; Outpatients ; Seoul

OBJECTIVE: To explore the genetic etiology of two pedigrees affected with congenital arthrogryposis. METHODS: Whole exome sequencing (WES) was used to screen potential variations in the proband. Suspected variations were analyzed with bioinformatics software and validated by Sanger sequencing. RESULTS: A heterozygous c.1123G>A (p.Glu375Lys) variation was detected in the proband and an affected fetus from pedigree 1, while a de novo heterozygous c.118 G>A (p.Val40Met) variation was detected in an affected fetus from pedigree 2. CONCLUSION The two heterozygous variations of the MYH3 gene probably underlie the disease in the pedigrees. Above results have facilitated genetic counseling and prenatal diagnosis.
Arthrogryposis ; Cytoskeletal Proteins ; genetics ; Female ; Heterozygote ; Humans ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Whole Exome Sequencing

Iniencephaly is an uncommon and fatal neural tube defect involving the occiput and inion, this occurs together with rachischisis of the cervical and thoracic spine, and retroflexion of the head. We report the ultrasound (US) and magnetic resonance (MR) imaging findings of a case of iniencephaly with clubfeet and arthrogryposis. The diagnosis of iniencephaly is easy to make on ultrasound due to the typical star-gazing fetus. However, the details of the fetal brain and spinal cord may not be adequately delineated on US. We found MR imaging to be superior for depicting central nervous system abnormalities. MR imaging has evolved as an imaging modality and it is complementary to fetal US, yet US remains the screening modality of choice.
Adult ; Arthrogryposis/diagnosis ; Clubfoot/diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Neural Tube Defects/*diagnosis ; Pregnancy ; *Prenatal Diagnosis ; Ultrasonography, Prenatal

Adult ; Aged ; Arthrogryposis ; diagnosis ; Female ; Hereditary Sensory and Motor Neuropathy ; diagnosis ; Humans ; Male ; Middle Aged ; Pedigree ; Young Adult

Arthrogryposis multiplex congenita is congenital disorder that characterized by multiple joint contractures. Although there are characteristic morphologic features, most of cases are diagnosed at birth and cases diagnosed by prenatal ultrasonography are rare. We describe a case of fetal arthrogryposis multiplex congenita seen prenatally with sonographic feature of multiple joint contractures including clubhands, clubfeet, and absent fetal movements in late second trimester. This report is the first case of arthrogryposis multiplex congenita that diagnosed by prenatal ultrasonography in Korean literature.
Arthrogryposis* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Contracture ; Female ; Fetal Movement ; Humans ; Joints ; Parturition ; Pregnancy ; Pregnancy Trimester, Second ; Prenatal Diagnosis ; Ultrasonography ; Ultrasonography, Prenatal*

Glycogen storage disease (GSD) is a group of heterogeneous disorders of glycogen metabolism that results in abnormal storage of glycogen in multiple organs. Clinical manifestations of GSD vary according to the basic enzyme defect. Only types II, IV, V or VII of GSD have been known to manifest in the infantile period. Of the 11 types of GSD, the congenital subtype of GSD type IV is characterized by severe neonatal hypotonia, multiple contractures, polyhydramnios, and fetal hydrops. We report a case of a patient born at a gestational age of 34 weeks and 3 days with fetal hydrops, joint contractures, and akinesia. Muscle biopsy results were highly indicative of GSD. This is the first case of suspected GSD in Korea presenting as fetal hydrops. The possibility of other disorders associated with glycogen metabolism should be considered in fatal fetal hydrops patients with severe hypotonia and arthrogryposis, and aggressive investigations such as muscle biopsy should be performed for early diagnosis.
Arthrogryposis ; Biopsy ; Contracture ; Early Diagnosis ; Gestational Age ; Glycogen Storage Disease* ; Glycogen* ; Humans ; Hydrops Fetalis* ; Joints ; Korea ; Metabolism ; Muscle Hypotonia ; Muscles ; Polyhydramnios

PURPOSE: ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. METHODS: The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. RESULTS: Of the 7 cases, 4 were boys and 3 were girls. Six patients(85%) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type 6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows:failure to thrive in 6(85%), lax skin in 5(71%), and gray platelet syndrome in 4(57%). Urine analysis revealed 6 cases(85%) with proteinuria, 3(43%) with hematuria, 5(71%) with glycosuria, 2(29%) with phosphaturia and 2(29%) with calciuria. Serum electrolytes showed 4 cases(57%) with hyponatremia, 3(43%) with hypokalemia, and 1(14%) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85%), nephrogenic diabetes insipidus in 2(29%), and Fanconi syndrome in 2(29%). During the follow-up period, 2(29%) had no treatment, 5(85%) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14%) had dialysis. Only one patient had a family history of ARC syndrome in a sibling. Four cases(57%) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. CONCLUSION: The rare disease of ARC syndrome is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the renal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance.
Acidosis ; Acidosis, Renal Tubular ; Arthrogryposis* ; Birth Weight ; Child ; Cholestasis ; Creatinine ; Diabetes Insipidus, Nephrogenic ; Diagnosis ; Dialysis ; Electrolytes ; Fanconi Syndrome ; Female ; Follow-Up Studies ; Genetic Counseling ; Glycosuria ; Gray Platelet Syndrome ; Hematuria ; Hospital Records ; Humans ; Hypokalemia ; Hyponatremia ; Hypophosphatemia, Familial ; Jaundice ; Korea* ; Proteinuria ; Rare Diseases ; Siblings ; Skin ; Survival Rate