Airway abnormalities in Jarcho-Levin syndrome: a report of two cases.

نویسندگان

  • M Schulman
  • M T Gonzalez
  • M R Bye
چکیده

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.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

گزارش یک مورد سندرم جارشو ـ لوین همراه با سندرم کودال رگرسیون در یک دختر 5 ساله

Introduction: Jarcho- Levin syndrome and caudal regression syndrome are rare syndromes with clinical and radiologic findings of cervical and thoracic vertebral anomalies with rib deformities (jarcho-levin syndrome) and sacrococcygeal agenesis, lower extremity anomalies, truncated spinal cord and neurogenic bladder (caudal regression syndrome). There are only one report of simultaneous existen...

متن کامل

معرفی اولین مورد سندرم “Jarcho-Levinاز ایران”

Jarcho-Levin syndrome is a rare central skeletal system defect with the involvement of ribs and vertebrae and association of short trunk stature and some other organ anomalies. One of the common problems is different rate of respiratory abnormalities. Chest X-Ray is the primary base for the diagnosis, but spiral 3D CT scan give us more accurate evaluation of the ribs situation. There are also c...

متن کامل

گزارش یک مورد Jarcho-Levin syndrom در یک شیرخوار دو ماهه و ترمیم فتق مغبنی با مش

Jarcho-Levin syndrome a very rare anomaly is described for a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and vertebral anomalies. The patient is two months old infant with spondylocostal dysostosis and bilateral direct recurrent inguinal hernia. He was successfully operated by a new method and after 36 months follow up he did not have any problem.

متن کامل

Infant of a Diabetic Mother with Spondylocostal Dysostosis and Multiple Congenital Anomalies

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 ...

متن کامل

Pulmonary 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 کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of medical genetics

دوره 30 10  شماره 

صفحات  -

تاریخ انتشار 1993