Literature DB >> 1488988

Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome.

K Narahara1, M Kamada, Y Takahashi, K Tsuji, Y Yokoyama, S Ninomiya, Y Seino.   

Abstract

We describe an 18-year-old girl with ovarian dysgenesis, dilated cardiomyopathy, mild mental retardation, broad nasal base, blepharoptosis, and minor skeletal abnormalities. This unusual association of manifestations was first reported by Malouf et al. [1985]. Our patient, although a sporadic case, supports the existence of Malouf syndrome.

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Year:  1992        PMID: 1488988     DOI: 10.1002/ajmg.1320440320

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

Review 1.  The carbohydrate-deficient glycoprotein syndromes: an overview.

Authors:  J Jaeken; H Carchon
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy: two-case report and literature review.

Authors:  Dilek Benk Şilfeler; Atilla Karateke; Raziye Keskin Kurt; Özgür Aldemir; Alper Buğra Nacar; Ali Baloğlu
Journal:  Case Rep Obstet Gynecol       Date:  2014-12-03

3.  Case of fatal heart failure with biventricular noncompaction, genital skeletal abnormalities and mental retardation.

Authors:  Halil Ataş; Fuad Samadov; İbrahim Sarı; Kenan Delil
Journal:  Anatol J Cardiol       Date:  2014-12-25       Impact factor: 1.596

  3 in total

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