Literature DB >> 3189394

Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

H M Saal1, R M Greenstein, P J Weinbaum, A E Poole.   

Abstract

We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.

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Year:  1988        PMID: 3189394     DOI: 10.1002/ajmg.1320300303

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  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.  Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

Authors:  J C de Almeida; D F Reis; J Llerena Júnior; J Barbosa Neto; R L Pontes; S Middleton; L F Telles
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

3.  Peters plus syndrome and absence of kidney: a case report.

Authors:  Navneet Tuli; Suresh Kumar; Sunandan Sood
Journal:  Cases J       Date:  2009-01-01
  3 in total

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