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A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?

We present an Arab family with some features of Kniest disease. The proband was a six year old boy with rhizomelic short limbed dwarfism, 'dish-like' facies, cleft palate, deafness, and camptodactyly. Most radiological changes were compatible with Kniest disease. Two younger sibs, similarl...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Farag, T I, Al-Awadi, S A, Hunt, M C, Satyanath, S, Zahran, M, Usha, R, Uma, R
פורמט: Artigo
שפה:Inglês
יצא לאור: 1987
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050286/
https://ncbi.nlm.nih.gov/pubmed/3681904
תגים: הוספת תג
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