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Association between Williams syndrome and adrenal insufficiency.

Abstract Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an assessment of degree of failure to thrive. Its association with primary adrenal insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and molecular analysis. Its management consists of the implementation of treatment for adrenal insufficiency associated with a clinico-biological monitoring.
PMID
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Authors

Mayor MeshTerms
Keywords

Fluorescent in situ hybridization

Williams syndrome

adrenal insufficiency

Journal Title the pan african medical journal
Publication Year Start




PMID- 28748012
OWN - NLM
STAT- MEDLINE
DA  - 20170727
DCOM- 20170804
LR  - 20170804
IS  - 1937-8688 (Electronic)
VI  - 27
DP  - 2017
TI  - [Association between Williams syndrome and adrenal insufficiency].
PG  - 10
LID - 10.11604/pamj.2017.27.10.8177 [doi]
AB  - Williams syndrome is a developmental disorder including dysmorphia,
      cardiovascular malformations and a specific neuropsychological profile together
      with other associated disorders. We report the case of a 17-year old girl, born
      of a non-inbred marriage, with Williams syndrome discovered during an assessment 
      of degree of failure to thrive. Its association with primary adrenal
      insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and
      molecular analysis. Its management consists of the implementation of treatment
      for adrenal insufficiency associated with a clinico-biological monitoring.
FAU - Rchachi, Meryem
AU  - Rchachi M
AD  - Service d'Endocrinologie, Diabetologie et Maladies Metaboliques, CHU Hassan II de
      Fes, Maroc.
FAU - Larwanou, Maazou Mahamane
AU  - Larwanou MM
AD  - Service d'Endocrinologie, Diabetologie et Maladies Metaboliques, CHU Hassan II de
      Fes, Maroc.
FAU - El Ouahabi, Hanan
AU  - El Ouahabi H
AD  - Service d'Endocrinologie, Diabetologie et Maladies Metaboliques, CHU Hassan II de
      Fes, Maroc.
AD  - Faculte de Medecine et de Pharmacie, Universite Sidi Mohamed Ben Abdellah, Fes,
      Maroc.
FAU - Ajdi, Farida
AU  - Ajdi F
AD  - Service d'Endocrinologie, Diabetologie et Maladies Metaboliques, CHU Hassan II de
      Fes, Maroc.
AD  - Faculte de Medecine et de Pharmacie, Universite Sidi Mohamed Ben Abdellah, Fes,
      Maroc.
LA  - fre
PT  - Case Reports
PT  - Journal Article
TT  - Association syndrome de Williams et insuffisance surrenalienne.
DEP - 20170505
PL  - Uganda
TA  - Pan Afr Med J
JT  - The Pan African medical journal
JID - 101517926
SB  - IM
MH  - Adolescent
MH  - Adrenal Insufficiency/*diagnosis/therapy
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Williams Syndrome/*diagnosis/physiopathology/therapy
PMC - PMC5511716
OTO - NOTNLM
OT  - Fluorescent in situ hybridization
OT  - Williams syndrome
OT  - adrenal insufficiency
EDAT- 2017/07/28 06:00
MHDA- 2017/08/05 06:00
CRDT- 2017/07/28 06:00
PHST- 2015/10/15 [received]
PHST- 2015/11/13 [accepted]
AID - 10.11604/pamj.2017.27.10.8177 [doi]
AID - PAMJ-27-10 [pii]
PST - epublish
SO  - Pan Afr Med J. 2017 May 5;27:10. doi: 10.11604/pamj.2017.27.10.8177. eCollection 
      2017.