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The Roberts syndrome
Author(s) -
Freeman Mahlon V. R.,
Williams Derek W.,
Schimke R. Neil,
Temtamy Samia A.,
Vachier Eduardo,
German James
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb01652.x
Subject(s) - syndactyly , ectrodactyly , phallus (fungus) , hypertelorism , anatomy , hypospadias , medicine , x linked recessive inheritance , polydactyly , biology , genetics , dermatology , x chromosome , ectodermal dysplasia , male genitalia , zoology , gene
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 unexplained.