Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family
نویسندگان
چکیده
منابع مشابه
Jarcho-Levin syndrome.
literature(2,3). Recently, this syndrome has been divided into two major subtypes: spondylothoracic dysostosis and spondylocostal dysostosis(3,4). We describe two cases of the JarchoLevin syndrome, one of each subtype (spondylothoracic dysostosis and spondylocostal dysostosis). The cases illustrate the typical findings of the syndrome and highlight the differences between the two subtypes of th...
متن کاملPulmonary hypoplasia in Jarcho-Levin syndrome.
Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and characterized by short trunk dwarfism, "crab-like" rib cage, with ribs and vertebral defects; it is not uncommon in Puerto Ricans. Many patients die in early infancy due to respiratory compromise associated to lung restriction and the reported cases emphasize mostly the skeletal malformations associated to the syndrome. We repo...
متن کاملAirway abnormalities in Jarcho-Levin syndrome: a report of two cases.
Two infants with the Jarcho-Levin syndrome of vertebral anomalies underwent flexible fibre optic bronchoscopy. Central airway abnormalities not amenable to surgical correction were found in both patients. These abnormalities may contribute significantly to the respiratory failure seen in affected infants, and should be considered when evaluating continuing medical support.
متن کاملJarcho Levin Syndrome Associated With Aortic Coarctation
Jarcho-Levin syndrome (JLS) is a rare congenital disorder characterized by the presence of vertebral and rib malformations at birth, first described in 1938 by Jarcho and Levin [1,2]. The majority of reported cases have originated in Puerto Rico, it seems that this syndrome is more common in patients with Spanish ancestors. Its frequency in Spain is 0.2 per 100000 newborns with a female predomi...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Family & Reproductive Health
سال: 2020
ISSN: 1735-9392,1735-8949
DOI: 10.18502/jfrh.v13i4.2650