Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50502 (Hip)
 7,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ellis van Creveld Syndrome (EVCs) is a chondroectodermal dysplasia. Its clinical picture includes a meso-acromielic limb dwarfism with normal spine, involvement of the teeth, hair and nails, polydactyly of the hands and feet and heart malformations. Ultrasonography compared with histology were used in the present study to evaluate neo-natal ultrasonographic hip development and acetabular hysto-morphology in EVCs. A flat and abnormal acetabulum with small beta angles and non measurable alfa angles were detected at repeated ultrasonographic evaluations at birth and at four months, with irregular echoes spiking from the inner part of the sockets; the acetabular cavities contained large early ossified proximal femoral epiphyses. Histology was obtained from phal-angeal growth plates of a surgically removed extradigit, stained with alcian blue/PAS and E.E.. The growth plates showed a distorted anatomy with irregular column formation and abnormal distribution of the hypetrophic cells. Ultrasound morphology corresponded to the altered growth plates seen at histology. Early detection of an abnormally early developed proximal femoral ossification centre could be considered a diagnostic feature of the syndrome especially when present in the prenatal period. (Hip International 2004; 14: 39-43).
Hip Int
PMID:Ultrasound evaluation of the hips and histological correlations in Ellis van Creveld Syndrome. 2824 77