BIOMAT Database Logo BIOMAT Database Logo

[Association between Williams syndrome and adrenal insufficiency]. 2017

Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
Service d'Endocrinologie, Diabétologie et Maladies Métaboliques, CHU Hassan II de Fès, Maroc.

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.

UI MeSH Term Description Entries
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000309 Adrenal Insufficiency Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS. Adrenal Gland Hypofunction,Hypoadrenalism,Adrenal Insufficiencies,Hypofunction, Adrenal Gland
D017404 In Situ Hybridization, Fluorescence A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei. FISH Technique,Fluorescent in Situ Hybridization,Hybridization in Situ, Fluorescence,FISH Technic,Hybridization in Situ, Fluorescent,In Situ Hybridization, Fluorescent,FISH Technics,FISH Techniques,Technic, FISH,Technics, FISH,Technique, FISH,Techniques, FISH
D018980 Williams Syndrome A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. Contiguous Gene Syndrome, Williams,Beuren Syndrome,Chromosome 7q11.23 Deletion Syndrome,Hypercalcemia-Supravalvar Aortic Stenosis,Supravalvar Aortic Stenosis Syndrome,Williams Contiguous Gene Syndrome,Williams-Beuren Syndrome,Aortic Stenoses, Hypercalcemia-Supravalvar,Aortic Stenosis, Hypercalcemia-Supravalvar,Hypercalcemia Supravalvar Aortic Stenosis,Hypercalcemia-Supravalvar Aortic Stenoses,Stenoses, Hypercalcemia-Supravalvar Aortic,Stenosis, Hypercalcemia-Supravalvar Aortic,Syndrome, Beuren,Syndrome, Williams,Syndrome, Williams-Beuren,Williams Beuren Syndrome

Related Publications

Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome.
March 2017, Annals of pediatric endocrinology & metabolism,
Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
Association between adrenal insufficiency and ventilator weaning.
February 2006, American journal of respiratory and critical care medicine,
Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
Association between adrenal insufficiency and ventilator weaning.
April 2006, American journal of respiratory and critical care medicine,
Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
Renal insufficiency in Williams syndrome.
September 1987, American journal of medical genetics,
Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
Association of Adrenal Insufficiency With Pediatric Pseudotumor Cerebri Syndrome.
November 2020, JAMA ophthalmology,
Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
Association of primary antiphospholipid syndrome with primary adrenal insufficiency.
July 1996, The Journal of rheumatology,
Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
The syndrome gonadal insufficiency, adrenal insufficiency.
March 1948, Wiener klinische Wochenschrift,
Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
The syndrome gonadal insufficiency, adrenal insufficiency.
June 1948, Klinische Medizin; osterreichische Zeitschrift fur wissenschaftliche und praktische Medizin,
Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
[Adrenal insufficiency and antiphospholipid syndrome].
January 1994, Annales d'endocrinologie,
Meryem Rchachi, and Maazou Mahamane Larwanou, and Hanan El Ouahabi, and Farida Ajdi
Association between relative adrenal insufficiency and septic cardiomyopathy: a preliminary report.
December 2017, Intensive care medicine,
Copied contents to your clipboard!