Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a family with some features of the Pseudo-Ullrich-Turner-Syndrome, so-called Noonan-Syndrome. Besides low-set ears, microgenia, short neck, pterygium colli, low-anterior hair line and small stature as well as partial scoliosis, partial cubitus valgus and camptodactylia, retinal detachment, disturbances of the eye motility, keratoconus, unilateral ptosis and antimongoloid slant of the palpebral fissures in different expression are described. The caryotype was normal. Some of the features can be seen within at least 2 generations of the family. It seems to be an autosomal genetic mode of transmission. Differences and common characteristics in comparison to the literature are shown. Differential diagnostic aspects are described. A definite relation to a syndrome already described is not possible.
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PMID:[Ocular symptoms in a family with pseudo-Ullrich-Turner syndrome]. 178 62

A case of Ullrich-Noonan syndrome with pulmonary stenosis, epicanthus, ptosis, small stature, curved tibia, positive sex chromatin, and a diploid chromosome number is presented. A detailed chromosomal banding analysis with the G-staining, C-staining and Ag-I-staining techniques revealed no significant anomalies. The literature is reviewed and the criteria for diagnosing Ullrich-Noonan syndrome are presented.
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PMID:Ullrich-Noonan syndrome. 742 72