An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.
نویسندگان
چکیده
Ambiguity of the external genitalia has been frequently documented in male patients classified as the Smith-Lemli-Opitz (SLO) syndrome. Four previous case reports suggest that in extreme cases of the SLO syndrome there may be complete lack of development of the male external genitalia even in the presence of a normal male 46,XY karyotype. We present an additional case of a phenotypically female infant with dysmorphic features compatible with SLO syndrome and a 46,XY chromosome complement.
منابع مشابه
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
We report a female infant diagnosed shortly after birth as having Smith-Lemli-Opitz syndrome. Despite previously reported normal G banded karyotypes, a high resolution banded chromosome analysis identified 46,XX,2q+. The importance of attention to established features of clinical syndromes, as well as persistence in investigation when diagnostic uncertainties exist, are discussed.
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To date, 11 cases with the Smith-Lemli-Opitz syndrome of failure to thrive and mental retardation, plus anomalies of the face, hands, feet, and genitalia have been reported (Smith, Lemli, and Opitz, 1964; Gibson, 1965; Blair and Martin, 1966; Dallaire and Fraser, 1966; Pinsky and DiGeorge, 1965). The purpose of this paper is to describe one more case which, in addition, presented evidence of an...
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A patient with a 46,XY chromosome constitution showed the following main characteristics: eunuchoidal body habitus, lack of secondary sexual development, normal female external genitalia with absence of vagina, no gonadal structures, and complete lack of internal genitalia except for rudimentary ductal structures defined by histological examination. Her condition is clearly different from that ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 23 2 شماره
صفحات -
تاریخ انتشار 1986