Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q86TM3 (cage)
 29,987 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The hyperplastic lungs protruding out of the thoracic cavity are described in a full term still-born male cotwin having Klippel-Feil syndrome, single umbilical artery, dextrocardia and a right sided aorta. Both lungs herniated into the abdomen through bilateral defects in the diaphragm. The righ lung, in addition, herniated superiorly toward the base of the skull. The pulmonary herniation appears to be due to spinal retroflexion which reduces the capacity of the thoracic cage. The various anomalies observed can be attributed to the disturbances caused by single umbilical artery.
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PMID:Ectopic lungs in a human fetus with Klippel-Feil syndrome. 60 69

Children diagnosed as FAS using standard criteria of maternal alcoholism, poor growth, delayed development and characteristic facial appearance underwent an investigative protocol involving skeletal x-ray surveys, cardiac assessments and intravenous pyelograms (IVP). Significant skeletal findings included cervical spine fusion in 20 of 46 children (43%), x-ray confirmation of microcephaly in 26/49 (53%) and abnormal thoracic cage development in 13/48 (27%). Thirty-nine of 54 children (72%) demonstrated a characteristic tapering of the shaft and occasional associated prominence of the tuft of the distal phalanges Bone age was delayed 2 standard deviations or greater in 14 of 51 children (27%). Cardiac lesions were found in 31 of 76 (41%) and a further 12 (16%) had functional murmurs. Lesions were ventricular septal defect 20 (26%), Tetralogy of Fallot 4 (5.1%), plus a variety of less frequent abnormalities. IVP's were limited to 19 random cases with 5 (26%) showing alterations from the normal. Cervical spine abnormalities of FAS as compared to the Klippel-Feil Syndrome are dissimilar and probably represent a different entity. Hand and lateral cervical spine x-ray studies are felt to be a useful adjunct to the diagnosis and management of the fetal alcohol syndrome.
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PMID:Intrinsic defects in the fetal alcohol syndrome: studies on 76 cases from British Columbia and the Yukon Territory. 719 90

Klippel-Feil syndrome (KFS) is a congenital developmental disorder of cervical spine, showing short neck with restricted neck motion, low hairline, and high thoracic cage due to multilevel cervical fusion. Radiculopathy or myelopathy can be accompanied. There were 2 patients who were diagnosed as KFS with exhibited radiological and physical characteristics. Both patients had stenosis and cord compression at C1 level due to anterior displacement of C1 posterior arch secondary to kyphotic deformity of upper cervical spine, which has been usually indicative to craniocervical fixation. One patient was referred due to quadriparesis detected after surgery for aortic arch aneurysmal dilatation. The other patient was referred to us due to paraparesis and radiating pain in all extremities developed during gynecological examinations. Decompressive C1 laminectomy was done for one patient and additional suboccipital craniectomy for the other. No craniocervical fixation was done because there was no spinal instability. Motor power improved immediately after the operation in both patients. Motor functions and spinal stability were well preserved in both patients for 2 years. In KFS patients with myelopathy at the C1 level without C1-2 instability, a favorable outcome could be achieved by a simple decompression without spinal fixation.
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PMID:Two Cases of Klippel-Feil Syndrome with Cervical Myelopathy Successfully Treated by Simple Decompression without Fixation. 2651 91