Literature DB >> 1505578

Robinow syndrome in two siblings from consanguineous parents.

D F Schorderet1, S Dahoun, I Defrance, D Nusslé, M A Morris.   

Abstract

A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).

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Year:  1992        PMID： 1505578     DOI： 10.1007/bf01957728

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


  26 in total

1.  Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins.

Authors:  H Nazer; T S Gunasekaran; N A Sakati; W L Nyhan
Journal:  Am J Med Genet       Date:  1990-12

2.  Robinow syndrome with parental consanguinity.

Authors:  D Glaser; J Herbst; K Roggenkamp; W Tünte; W Lenz
Journal:  Eur J Pediatr       Date:  1989-06       Impact factor: 3.183

3.  Linkage of the steroid sulfatase gene to the sex-reversed mutation in the mouse.

Authors:  E A Keitges; D F Schorderet; S M Gartler
Journal:  Genetics       Date:  1987-07       Impact factor: 4.562

4.  Robinow syndrome without mesomelic 'brachymelia': a report of five cases.

Authors:  M D Bain; R M Winter; J Burn
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

5.  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 6.  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

Review 7.  Diagnostic approach to the newborn with ambiguous genitalia.

Authors:  R A Pagon
Journal:  Pediatr Clin North Am       Date:  1987-08       Impact factor: 3.278

8.  Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome.

Authors:  P Goodfellow; G Banting; D Sheer; H H Ropers; A Caine; M A Ferguson-Smith; S Povey; R Voss
Journal:  Nature       Date:  1983 Mar 24-30       Impact factor: 49.962

9.  Autosomal recessive Robinow syndrome.

Authors:  A S Teebi
Journal:  Am J Med Genet       Date:  1990-01

10.  Localization of the human GM-CSF receptor gene to the X-Y pseudoautosomal region.

Authors:  N M Gough; D P Gearing; N A Nicola; E Baker; M Pritchard; D F Callen; G R Sutherland
Journal:  Nature       Date:  1990-06-21       Impact factor: 49.962
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  1 in total

1.  Unusual traits associated with Robinow syndrome.

Authors:  M A Sabry; E A Ismail; R L al-Naggar; N A al-Torki; S Farah; S A al-Awadi; D Obenbergerova; L Bastaki
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318
  1 in total

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