Kallmann's Syndrome Associated With Atrial Septal Defect

Dimitrovski, Cedo

doi:10.1001/jama.1982.03330110054028

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1987

1993

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Cited by 3 publications

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Congenital heart disease associated with sporadic Kallmann syndrome

Ab¹,

Galindo

et al. 1993

Am. J. Med. Genet.

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A 17-year-old boy with Kallmann syndrome had complex congenital heart disease that included double-outlet right ventricle, d-mal-position of the great arteries, right aortic arch, and hypoplastic main pulmonary artery. He had neurosensory hearing loss and mental retardation. The 7 previously reported patients with Kallmann syndrome and cardiac abnormalities were short with height > or = 2 standard deviations below the mean for age (5/7), lacked a family history of Kallmann syndrome (6/6), and were mentally retarded (4/4). Patients presenting with Kallmann syndrome and congenital heart defects appear to represent a distinct subgroup of patients with Kallmann syndrome. The cause of this association is unclear, but may involve either autosomal recessive inheritance, sporadic dominant mutation, or a shared teratogenic event during the first trimester of gestation.

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Congenital heart disease associated with sporadic Kallmann syndrome

Ab¹,

Galindo

et al. 1993

Am. J. Med. Genet.

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Hypogonadotropic Hypogonadism

Kannan¹

1987

The Pituitary Gland

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Kallmann syndrome associated with choanal atresia

et al. 1987

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Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. A previously unreported association of Kallmann syndrome and choanal atresia in a family is reported. The mechanism of the embryopathic association of hypogonadotropic hypogonadism, anosmia, and choanal atresia is thought to be due to a single developmental field defect in the region of the median forebrain and associated structures. An irregular autosomal dominant mode of inheritance is suspected.

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Kallmann's Syndrome Associated With Atrial Septal Defect

Cited by 3 publications

References 4 publications

Congenital heart disease associated with sporadic Kallmann syndrome

Congenital heart disease associated with sporadic Kallmann syndrome

Hypogonadotropic Hypogonadism

Kallmann syndrome associated with choanal atresia

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