Literature DB >> 2591069

Hereditary spastic diplegia with mental retardation in two young siblings.

K H Gustavson1, K Modrzewska, A Erikson.   

Abstract

Two young siblings with hereditary spastic diplegia and mental retardation (Böök's syndrome) have had detailed clinical investigations since infancy. The inheritance pattern of this syndrome in the present family fits well with an autosomal recessive trait--with affected sibs of opposite sex, born to consanguineous healthy parents.

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Year:  1989        PMID： 2591069     DOI： 10.1111/j.1399-0004.1989.tb03373.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  2 in total

1.  Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Authors:  A S Teebi; S Miller; H Ostrer; P Eydoux; C Colomb-Brockmann; K Oudjhane; G Watters
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

2.  An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.

Authors:  Anna Rajab; Seung-Yun Yoo; Aiman Abdulgalil; Salem Kathiri; Riaz Ahmed; Ganeshwaran H Mochida; Adria Bodell; A James Barkovich; Christopher A Walsh
Journal:  Am J Med Genet A       Date:  2006-07-15       Impact factor: 2.802
  2 in total

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