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)
A 32-month-old boy with
hypotonia
, developmental delay, and multiple craniofacial abnormalities including craniosynostosis presented with numerous nonspecific, flesh-colored papules on his right flank. Upon biopsy, these lesions were diagnosed as elastomas. Similar skin lesions were found in the patient's younger brother. The patient's father and brother had osteopoikilotic lesions on radiography, but the patient did not have these findings. None of the reported cases to date have included craniosynostosis in association with
Buschke-Ollendorff syndrome
. In addition to the case findings, the report also provides a short and current review of the syndrome.
...
PMID:Buschke-Ollendorff syndrome: a 32-month-old boy with elastomas and craniosynostosis. 1857 41
