Infant of a Diabetic Mother with Spondylocostal Dysostosis and Multiple Congenital Anomalies
نویسندگان
چکیده
Jarcho-Levin syndrome is a rare genetic disorder characterized by respiratory insufficiency and multiple spine and rib abnormalities. It was first described by Jarcho and Levin in 1938. Spondylocostal dysostosis (SCD) and spondylothoracic dysostosis (STD) are the subtypes of Jarcho-Levin Syndrome, which show a hereditary picture. Autosomal dominant, autosomal recessive, and sporadic cases have been described in the literature (1, 2). The prevalence of this syndrome has been reported as 0.25/10.000. A developmental problem that occurs in a period between the 4th and 8th weeks of the fetal life is believed to be responsible for the pathogenesis, although its cause is not completely known. Multiple organ anomalies may accompany (3).
منابع مشابه
Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report.
Jarcho Levin syndrome is a rare genetic disorder characterized by multipl vertebral and costal anomalies at birth. Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. Associated malformations include those of th...
متن کاملA Rare Case of Dextrocardia with Situs Inversus Totalis in a Patient of Diabetic Mother
Infants of diabetic mothers are significantly at higher risk for major congenital malformations, with cardiovascular anomalies that is the most frequent. In this study, we presented a rare case of dextrocardia and situs inversus totalis (mirror-image dextrocardia) with multiple congenital heart anomalies who was born from a diabetic mother.
متن کاملCongenital spinal deformity in a three generation family.
Short stature resulting from spinal deformity in three generations of a family is reported. Multiple vertebral anomalies were found in the proband and are the probable underlying cause of the severe scoliosis seen in the adult members. The pattern of inheritance suggests that an autosomal dominant gene is responsible for this condition, but it may well be the same gene that causes the dominant ...
متن کاملFetal diagnosis of spondylocostal dysplasia: Limits of conventional fetal ultrasound & MRI in diagnosing anomalies
We present a case of postnatally recognized spondylocostal dysplasia that was prenatally misdiagnosed as fetal thoracolumbar kyphoscoliosis secondary to spinal fusion anomalies. Neither two-dimensional ultrasound nor MRI identified the rib anomalies, nor did they allow for correct identification of the more compromised lung. Spondylocostal and spondylothoracic dysostoses involve rib deformities...
متن کاملA child with Jarcho-levin syndrome
In 1938, Jarcho and Levin1 first described a syndrome of congenital abnormalities affecting the spine and the thorax. The syndrome described a spectrum of radiological and skeletal anomalies including abnormal vertebral segmentation or formation defects, rib deformities and short trunk dwarfism. In 1978, Solomon et al2 subdivided patients with the above features into 2 distinct phenotypes: spon...
متن کامل