Kallmann Syndrome with Syndactyly
نویسندگان
چکیده
منابع مشابه
Kallmann syndrome with a Tyr113His PROKR2 mutation
RATIONAL Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance. PATIENT CONCERNS A 16-year-old male did not reach puberty and was associated with hypogonadotropic hypogonadism and anosmia. His magnetic resonance imaging of brain revealed the absence of the olfactory bulb. DIAGNOSIS ...
متن کاملKallmann syndrome: MR findings.
PURPOSE To evaluate patients with known hypogonadotropic hypogonadism, some with known anosmia, for defective rhinocephalon development that resulted in olfactory tract abnormalities, an affliction known as Kallmann syndrome. METHODS Six patients who clinically had hypogonadotropic hypogonadism were examined by MR. Thin coronal images of the interior frontal region were used to determine pres...
متن کاملMRI findings in Kallmann syndrome.
Kallmann syndrome (KS) is a neuronal migration disorder characterised by hypogonadotrophic hypogonadism and anosmia or hyposmia. Five patients with clinical findings suggestive of KS were evaluated with MRI. All patients had abnormalities of olfactory system. Olfactory bulbs were absent in all patients. Olfactory sulci were absent in 3 patients and hypoplastic in 2 patients. Anterior pituitary ...
متن کاملBrain changes in Kallmann syndrome.
BACKGROUND AND PURPOSE Kallmann syndrome is a rare inherited disorder due to defective intrauterine migration of olfactory axons and gonadotropin-releasing hormone neurons, leading to rhinencephalon hypoplasia and hypogonadotropic hypogonadism. Concomitant brain developmental abnormalities have been described. Our aim was to investigate Kallmann syndrome-related brain changes with conventional ...
متن کاملBringing Kallmann syndrome into focus.
Three articles ( 1-3) in this issue of AJNR bring the power of magnetic resonance (MR) to bear on the problem of neuroimaging in Kallmann syndrome (KS). These investigators provide the most detailed views of KS olfactory pathology that can be obtained outside of the anatomy laboratory, opening a new window on the study of this disease. The principle phenotypic features of KS, anosmia and hypogo...
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ژورنال
عنوان ژورنال: Journal of the College of Physicians and Surgeons Pakistan
سال: 2019
ISSN: 1022-386X,1681-7168
DOI: 10.29271/jcpsp.2019.12.s101