PMID- 27209840
OWN - NLM
STAT- MEDLINE
DCOM- 20160629
LR  - 20160523
IS  - 2067-2993 (Print)
IS  - 2067-2993 (Linking)
VI  - 65
IP  - 1
DP  - 2016 Jan-Mar
TI  - Williams-Beuren syndrome--a rare cause of recurrent hemoptysis.
PG  - 39-44
AB  - Williams-Beuren syndrome (WBS) is a rare genetic disease with a distinctive 
      constellation of clinical findings. The disease can be diagnosed clinically by a 
      recognizable pattern of malformations, including cardiovascular malformations, a 
      characteristic facial dysmorphism, as well as neurological and cognitive 
      features. We present the case of a 23-years-old woman repeatedly admitted to 
      Pulmonology Clinic for massive hemoptysis. Diagnosis of Williams-Beuren syndrome 
      was revealed by clinical findings and confirmed by CT-angiography data of 
      cardiovascular malformations and fluorescence in situ hybridization (FISH) 
      genetic test. WBS is a multisystem disorder and usually is recognized by 
      clinician. If clinical impression is not clearly consistent with WBS, FISH 
      remains the most widely used test.
FAU - Botnaru, Victor
AU  - Botnaru V
FAU - Rusu, Doina
AU  - Rusu D
FAU - Munteanu, Oxana
AU  - Munteanu O
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Romania
TA  - Pneumologia
JT  - Pneumologia (Bucharest, Romania)
JID - 100941067
RN  - 0 (Biomarkers)
RN  - 9007-58-3 (Elastin)
RN  - EC 2.7.11.1 (Lim Kinases)
SB  - IM
MH  - *Abnormalities, Multiple/genetics
MH  - Adult
MH  - Angiography/methods
MH  - Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/genetics
MH  - Biomarkers/blood
MH  - Chromosome Deletion
MH  - Elastin/*genetics
MH  - Face/abnormalities
MH  - Female
MH  - Heart Septal Defects, Atrial/genetics
MH  - Hemoptysis/*genetics
MH  - Humans
MH  - Hypertension, Pulmonary/genetics
MH  - Intellectual Disability/genetics
MH  - Lim Kinases/*genetics
MH  - Rare Diseases
MH  - Recurrence
MH  - Williams Syndrome/diagnosis/*genetics
EDAT- 2016/05/24 06:00
MHDA- 2016/06/30 06:00
CRDT- 2016/05/24 06:00
PHST- 2016/05/24 06:00 [entrez]
PHST- 2016/05/24 06:00 [pubmed]
PHST- 2016/06/30 06:00 [medline]
PST - ppublish
SO  - Pneumologia. 2016 Jan-Mar;65(1):39-44.