No abstract available.
Adrenal Hyperplasia, Congenital* ; Adrenogenital Syndrome*

Jarcho-Levin syndrome is a rare condition, characterized by multiple morphological abnormalities of the vertebrae and ribs due to malsegmentation of the axial skeleton. The authors report a case of Jarcho-Levin syndrome, with a review of the related literature. A full-term neonate presented with a reducible bulging mass in the left lateral thoracoabdominal wall, respiratory difficulty with cyanosis, and an imperforate anus. A radiographic examination revealed severe cervicothoracic vertebral anomalies, associated with secondary deformities of the ribs. An echocardiogram demonstrated a complete atrioventricular canal defect with TOF. To the best of our knowledge, this case of Jarcho-Levin syndrome, associated with a thoracoabdominal wall hernia and an imperforate anus, appears to be the first reported in the Korean and English language literatures.
Anus, Imperforate* ; Congenital Abnormalities ; Cyanosis ; Heart Defects, Congenital ; Hernia* ; Humans ; Infant, Newborn ; Ribs ; Skeleton ; Spine

Omphalocele-exstrophy-imperforate anus-spinal defects(OEIS Syndrome) is a single defect in early mesoderm, and its incidence is about one in 250,000. If was first described by Littre in 1709. The characteristics of this disorder is omphalocele, extrpohy of bladder, imperforate anus and spina bifida. There have been reports of longtime survival made possible by several operations, but for most cases normal life is impossible due to the deformities. We report a case of OEIS complex who had omphalocele, exstrophy of bladder, imperforate anus and spina bifida from birth.
Anus, Imperforate ; Bladder Exstrophy ; Congenital Abnormalities ; Hernia, Umbilical ; Incidence ; Mesoderm ; Parturition ; Spinal Dysraphism ; Urinary Bladder

Omphalocele-exstrophy-imperforate anus-spinal defects(OEIS Syndrome) is a single defect in early mesoderm, and its incidence is about one in 250,000. If was first described by Littre in 1709. The characteristics of this disorder is omphalocele, extrpohy of bladder, imperforate anus and spina bifida. There have been reports of longtime survival made possible by several operations, but for most cases normal life is impossible due to the deformities. We report a case of OEIS complex who had omphalocele, exstrophy of bladder, imperforate anus and spina bifida from birth.
Anus, Imperforate ; Bladder Exstrophy ; Congenital Abnormalities ; Hernia, Umbilical ; Incidence ; Mesoderm ; Parturition ; Spinal Dysraphism ; Urinary Bladder

Congenital dislocation of the knee is a very rare condition and was first described by Chatelaine in 1822. The etiology of this condition is unknown. It is generally subclassified as simple hyperextension, subluxation, and dislocation, depending on the degree of the joint displacement and the severity of disease. There are a large of associated conditions that have been described, the most common of which are congenital dislocation of the hip, club foot, arthrogryposis, and Larsen's syndrome. The mainstay of treatment is early serial rnanipulation and splinting. Operative treatment was indicated whenever conservative treatment did not lead to satisfactory reduction. The authors experienced a case of congenital hyperextension of left knee associated with the calcaneovalgus deformity of both foot. Early closed treatment obtanied a successful reduction and satisfactory knee motion.
Arthrogryposis ; Congenital Abnormalities ; Dislocations ; Foot ; Hip ; Joints ; Knee* ; Splints

13q- syndrome is a rare genetic disorder characterized by psychomotor retardation, hypotonia, microcephaly, retinoblastoma, ptosis and coloboma. Facial and congenital heart anomalies are also found and about 60% of males have genital and anorectal malformations. We report a case of 13q- syndrome male infant with many of afore mentioned features including imperforate anus, penoscrotal inversion, dolichocephaly, large low set ears, micrognathia, bifid scrotum with arthrogryposis, diagnosed by chromosomal analysis using synchronized high resolution G-banding technique which revealed of 46, XY, del(13) (q22) in all 20 metaphases. Echocardiogram and kidney sonogram were normal.
Anus, Imperforate ; Arthrogryposis* ; Chromosomes, Human, Pair 13 ; Coloboma ; Ear ; Heart ; Humans ; Infant ; Kidney ; Male ; Metaphase ; Microcephaly ; Muscle Hypotonia ; Retinoblastoma ; Scrotum

No abstract available.
Acrodermatitis*

No abstract available.
Acrodermatitis*

No abstract available.
Arthrogryposis*

No abstract available.
Arthrogryposis*