Literature DB >> 14288458

A FAMILIAL SYNDROME OF FACIAL AND SKELETAL ANOMALIES ASSOCIATED WITH GENITAL ABNORMALITY IN THE MALE AND NORAML GENITALS IN THE FEMALE: ANOTHER CAUSE OF MALE PSEUDOHERMAPHRODITISM.

L PINSKY, A M DIGEORGE.   

Abstract

Entities:  

Keywords:  ABNORMALITIES; EYE MANIFESTATIONS; FACIAL EXPRESSION; FOOT DISEASES; GENETICS, HUMAN; HAND DEFORMITIES; HERMAPHRODITISM; HYPOSPADIAS; INFANT, NEWBORN; JAW; MENTAL RETARDATION; MICROCEPHALY; MOVEMENT DISORDERS; NOSE DEFORMITIES; PYLORIC STENOSIS; RETROGNATHISM; SKIN MANIFESTATIONS; STRABISMUS

Mesh：

Year:  1965        PMID： 14288458     DOI： 10.1016/s0022-3476(65)80091-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  6 in total

1.  Smith-Lemli-Opitz syndrome: review and report of two affected siblings.

Authors:  V P Johnson
Journal:  Z Kinderheilkd       Date:  1975

Review 2.  The Smith-Lemli-Opitz syndrome.

Authors:  R I Kelley; R C Hennekam
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

3.  Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

Authors:  L Dallaire
Journal:  J Med Genet       Date:  1969-06       Impact factor: 6.318

4.  Smith-Lemli-Opitz syndrome. Case report.

Authors:  R H Ruvalcaba; A Reichert; D W Smith
Journal:  Arch Dis Child       Date:  1968-10       Impact factor: 3.791

5.  [The Smith-Lemli-Opitz-syndrome].

Authors:  H Schumacher
Journal:  Z Kinderheilkd       Date:  1969

Review 6.  Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

Authors:  M L Merrer; M L Briard; S Girard; N Mulliez; C Moraine; M C Imbert
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318
  6 in total

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