Naslov
Woodhouse-Sakati syndrome; report of a patient

Autori
Medica, Igor ; Teran, N ; Sepčić, Juraj ; Ristić, Smiljana ; Brajenović, Bojana ; Peterlin, Borut

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
European Journal of Human Genetics 9(Suppl.1) / ESHG - Beč : Nature publishing group, 2001

Skup
10th International Congress of Human Genetics

Mjesto i datum
Beč, Austrija, 15.05.2001. - 19.05.2001

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Woodhouse-Sakati syndrome

Sažetak
Background; Woodhouse-Sakati syndrome is an autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation and electrocardiographic abnormalities. The combination of endocrine and neuroectodermal abnormalities has been reported as distinctive familial syndromes. The number of variants of the alopecia-mental retardation-hypogonadism syndromes represent a clinical problem in differential diagnosis. Case report; In a 52-year-old woman from a consanguine pedigree we observed mental retardation, short stature, alopecia with absence of eyebrows, hypogonadism, primary amenorrhea and diabetes mellitus. Other manifestations include problems of limited mobility of upper extremities. A deceased cousin also had similar phenotype. The diagnosis of Turner syndrome and congenital myotonic dystrophy were suggested by referring physicians, however clinical, neurophysiological, cytogenetic analysis and molecular genetic testing for myotonic dystrophy excluded the two syndromes. Conclusion; Comparing the phenotype of our patient to similar cases in the literature, the features suggest that she has Woodhouse-Sakati syndrome. Other manifestations, such as problems of limited mobility of upper extremities, are previously undescribed as symptomatic of the syndrome. The report of this patient with Woodhouse-Sakati syndrome, a rare but distinctive disorder, is to our knowledge the third described in the literature.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

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