Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We present a patient with all the physical characteristics of
Lujan-Fryns syndrome
, including Marfanoid habitus, mild general
hypotonia
, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. Despite the presence of impaired mental abilities in many areas, this young man showed intact concrete problem-solving skills under structured, interactive conditions. In addition, he did not demonstrate any of the psychiatric features that have often been reported with this syndrome. We conclude that
Lujan-Fryns syndrome
can be associated with partial preservation of neurobehavioral abilities.
...
PMID:Preserved neurobehavioral abilities in Lujan-Fryns syndrome. 1180 7
