Cases reported "Kallmann Syndrome"

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1/1. Incomplete bilateral transverse facial cleft--a previously unreported associated defect of the Kallmann's syndrome.

    In 1944 Kallmann et al described sex-linked inheritance of hypogonadotropic hypogonadism with anosmia and noted the co-occurrence cleft lip, cleft palate and cranio-facial asymmetry. Since then, other clinical cases associated with various skeletal, ophthalmic, urogenital, cardiovascular and central nervous system disorders have been reported. This article presents the case of a 17-year-old girl with a bilateral incomplete facial cleft in association with the Kallmann's syndrome, a previously unreported connection. We describe the plastic surgical reconstruction of the bilateral incomplete facial cleft. The mechanism of this embryopathologic association of the Kallmann's syndrome is, we suggest, due to a developmental disturbance in the region of the median forebrain organizer and associated structures, possibly in connection with a pleiotropic genetic mechanism.
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