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Smith-Lemli-Opitz syndromes: Do they include the Pallister-Hall syndrome?

✍ Scribed by Donnai, Dian ;Burn, John ;Hughes, Helen ;Opitz, John M.

Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
165 KB
Volume
28
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

We wish to contribute to the current debate about the Smith-Lemli-Opitz syndrome (SLO) and enliven it by evidence one of us (D.D.) presented in a paper at the 2nd Manchester Birth Defects Conference in October 1986 following a suggestion made by John Graham in a personal communication that the severe SLO syndrome and the Pallister-Hall (PH) syndrome (Hall et al, 1980) may represent phenotypic variations of one condition.

Here we report on the manifestations of 2 patients which appear to "bridge the gap" between the two syndromes. In addition, anomalies in 37 other cases of severe SLO syndrome and 10 cases of Pallister-Hall syndrome are listed in the accompanying table to demonstrate the phenotypic overlap of the two conditions.

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