The Roberts syndrome
作者:
Mahlon V. R. Freeman,
Derek W. Williams,
R. Neil Schimke,
Samia A. Temtamy,
Eduardo Vachier,
James German,
期刊:
Clinical Genetics
(WILEY Available online 1974)
卷期:
Volume 5,
issue 1
页码: 1-16
ISSN:0009-9163
年代: 1974
DOI:10.1111/j.1399-0004.1974.tb01652.x
出版商: Blackwell Publishing Ltd
数据来源: WILEY
摘要:
The Roberts syndrome consists of tetraphocomelia, cleft lip/palate, and prominence of the phallus. This paper summarizes the major phenotypic abnormalities of 17 previously reported cases and reports five new cases. The features to be considered in the diagnosis of the Roberts syndrome arc: (1) tetraphocornelia with ectrodactyly and syndactyly, (2) cleft lip/palate with protrusion of the intermaxillary portion of the upper jaw, (3) ocular hypertelorism, (4) prominence of the phallus, (5) cryptorchidism in the male, and (6) intra‐ and extra‐uterine growth retardation. Analysis of pedigrees suggests autosomal recessive inheritance. The morphologic appearance of the metaphasc chromosomes in one case was unusual and unexplai
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