Alström syndrome with acanthosis nigricans: A case report and literature review

Genetic Counseling

Volumn 22, Issue 4, 2011, Pages 393-400

  Akdeniz, N ^a   Gunes Bilgili, Serap ^a   Aktar, S ^a   Yuca, S ^a   Calka, O ^a   Kilic, A ^a   Kosem, M ^a  

^a YUZUNCU YIL UNIVERSITY   (Turkey)

Author keywords

Acanthosis nigricans; Alstr m syndrome; Child; Childhood obesity; Genetic disorder

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; GAMMA GLUTAMYLTRANSFERASE; INSULIN; METFORMIN; TRIACYLGLYCEROL;

ACANTHOSIS NIGRICANS; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALSTROM SYNDROME; ARTERIOVENOUS FISTULA; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CHILD; CLINICAL EXAMINATION; CONSANGUINEOUS MARRIAGE; ECHOGRAPHY; ENDOCRINOLOGY; FATTY LIVER; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GLUCOSE BLOOD LEVEL; GLUCOSE INTOLERANCE; GYNECOMASTIA; HEARING LOSS; HEART AUSCULTATION; HEPATOSPLENOMEGALY; HUMAN; HYPERINSULINISM; HYPERLIPIDEMIA; HYPERPIGMENTATION; INSULIN BLOOD LEVEL; LABORATORY TEST; LOW FAT DIET; MALE; OBESITY; PEDIATRIC CARDIOLOGY; SCHOOL CHILD; SKIN DEFECT; SKIN PIGMENTATION; SPLENOMEGALY; TRIACYLGLYCEROL BLOOD LEVEL; WEIGHT GAIN;

ACANTHOSIS NIGRICANS; ALSTROM SYNDROME; BIOPSY; CHILD; CONSANGUINITY; EARLY DIAGNOSIS; HUMANS; MALE; OPHTHALMOSCOPY; PROTEINS; SKIN;

EID: 84855985468     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. AWAZU M., TANAKA T., SATO S., ANZO M., HIGUCHI M., YAMAZAKI M., MATSUO N.: Hepatic dysfunction in two sibs with Alström Syndrome: case report and review of the literature. Am. J. Med. Genet., 1991, 69(1), 13-16.
2. GOGI D, BOND J., LONG V., SHERIDAN E., WOODS C.G.: Exudative retinopathy in a girl with Alstrom syndrome due to a novel mutation. Br. J. Ophthalmol., 2007, 91(7), 983-984.
3. JOY T., CAO H., BLACK G., MALIK R., CHARLTON-MENYS V., HEGELE R.A., DURRINGTON P.N.: Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet. J. Rare. Dis., 2007, 2, 49.
4. KOC E., BAYRAK G., SUHER M., ENSARI C., AKTAS D., ENSARI A.: Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. Nephrology. (Carlton)., 2006, 11(2), 81-84.
5. MARSHALL J.D., BECK S., MAFFEI P., NAGGERT J.K.: Alström Syndrome. Eur. J. Hum. Genet., 2007, 15(12), 1193-1202.
6. MARSHALL J.D., BRONSON R.T., COLLIN G.B., NORDSTROM A.D., MAFFEI P., PAISEY R.B., CAREY C., MACDERMOTT S., RUSSELL-EGGITT I., SHEA S.E., DAVIS J., BECK S., SHATIRISHVILI G., MIHAI C.M., HOELTZENBEIN M., POZZAN G.B., HOPKINSON I., SICOLO N., NAGGERT J.K., NISHINA P.M.: New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch. Intern. Med., 2005, 165(6), 675-683.
7. MARSHALL J.D., LUDMAN M.D., SHEA S.E., SALISBURY S.R., WILLI S.M., LAROCHE R.G., NISHINA P.M.: Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. Am. J Med. Genet., 1997, 73(2), 150-161.
8. PAISEY R.B., CAREY C.M., BOWER L., MARSHALL J., TAYLOR P., MAFFEI P., MANSELL P.: Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases. Clin. Endocrinol., 2004, 60(2), 228-231.