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Unusual manifestation of Marden-walker syndrome.

Taksande, Amar M; Vilhekar, K Y.

Indian J Hum Genet ; 2012 May; 18(2): 256-258

Article in English | IMSEAR | ID: sea-143284

ABSTRACT

Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system.

Subject(s)

Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/etiology , Adult , Arachnodactyly/diagnosis , Arachnodactyly/etiology , Blepharophimosis/diagnosis , Blepharophimosis/etiology , Cesarean Section , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/etiology , Contracture/diagnosis , Contracture/etiology , Female , Heart Septal Defects, Atrial/etiology , Hernia, Inguinal/etiology , Humans , Infant, Premature , Male

ABSTRACT

Subject(s)

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