Literature DB >> 2373109

Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency.

E Schönau1, R A Pfeiffer, H U Schweikert, B Böwing, G Schott.   

Abstract

Typical features of the "fetal face" or Robinow syndrome are reported in a male infant who presented with ambiguous genitalia and persistence of the Mullerian ducts. Histology of the testes was normal whereas endocrinological studies showed partial deficiency of androgen receptors.

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Year:  1990        PMID： 2373109     DOI： 10.1007/bf02034745

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  9 in total

1.  The Robinow syndrome: an isolated case with a detailed study of the phenotype.

Authors:  T E Kelly; R Benson; S Temtamy; L Plotnick; S Levin
Journal:  Am J Dis Child       Date:  1975-03

2.  Intracellular and nuclear binding of [3H]dihydrotestosterone in cultured genital skin fibroblasts of patients with severe hypospadias.

Authors:  H U Schweikert; M Schlüter; G Romalo
Journal:  J Clin Invest       Date:  1989-02       Impact factor: 14.808

3.  [Complex of multiple malformations in two unrelated children (author's transl)].

Authors:  R A Pfeiffer; H Müller
Journal:  Padiatr Padol       Date:  1971

4.  A newly recognized dwarfing syndrome.

Authors:  M Robinow; F N Silverman; H D Smith
Journal:  Am J Dis Child       Date:  1969-06

5.  Dihydrotestosterone formation in cultured human fibroblasts. Comparison of cells from normal subjects and patients with familial incomplete male pseudohermaphroditism, Type 2.

Authors:  J D Wilson
Journal:  J Biol Chem       Date:  1975-05-10       Impact factor: 5.157

6.  Robinow's syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis.

Authors:  P A Lee; C J Migeon; T R Brown; M Robinow
Journal:  Am J Dis Child       Date:  1982-04

7.  Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate.

Authors:  R J Shprintzen; R B Goldberg; P Saenger; E J Sidoti
Journal:  Am J Dis Child       Date:  1982-07

Review 8.  Robinow syndrome: report of two patients and review of literature.

Authors:  M G Butler; W B Wadlington
Journal:  Clin Genet       Date:  1987-02       Impact factor: 4.438

9.  Testicular feminization associated with a thermolabile androgen receptor in culutred human fibroblasts.

Authors:  J E Griffin
Journal:  J Clin Invest       Date:  1979-12       Impact factor: 14.808
  9 in total
  2 in total

Review 1.  Robinow syndrome.

Authors:  M A Patton; A R Afzal
Journal:  J Med Genet       Date:  2002-05       Impact factor: 6.318

2.  Robinow syndrome in two siblings from consanguineous parents.

Authors:  D F Schorderet; S Dahoun; I Defrance; D Nusslé; M A Morris
Journal:  Eur J Pediatr       Date:  1992-08       Impact factor: 3.183
  2 in total

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