Literature DB >> 1227531

New syndromes of mental retardation.

T F Thurmon, C L Santos.   

Abstract

During a survey of a selected group of residents of an institution for the mentally retarded, four previously undescribed syndromes were found. They were characterized as follows: cerebral maldevelopment, dwarfism and cataracts (autosomal recessive inheritance); cerebral maldevelopment, dwarfism and facial osteoproliferation (autosomal recessive inheritance); cerebral maldevelopment and colobomata (autosomal recessive inheritance); and cerebral maldevelopment and acrocephaly (X-linked recessive inheritance).

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Year:  1975        PMID: 1227531

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  1 in total

1.  The Joubert syndrome associated with bilateral chorioretinal coloboma.

Authors:  D Lindhout; P G Barth; J Valk; T N Boen-Tan
Journal:  Eur J Pediatr       Date:  1980-08       Impact factor: 3.183

  1 in total

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