Kallmann syndrome in two sisters with other developmental anomalies also affecting their father
| Autor: | C. M. Levy, J. Knudtzon |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Adult
Male Adolescent Hearing loss Kallmann syndrome Coarctation of the aorta Anosmia Vesicoureteral reflux Aortic Coarctation Olfaction Disorders Hypogonadotropic hypogonadism Optic Nerve Diseases Genetics medicine Humans Hearing Loss Genetics (clinical) Puberty Delayed Vesico-Ureteral Reflux Coloboma business.industry Anatomy Kallmann Syndrome Luteinizing Hormone medicine.disease Phenotype Growth Hormone Karyotyping Female medicine.symptom Unilateral hearing loss Follicle Stimulating Hormone Ureter business |
| Zdroj: | Clinical genetics. 43(1) |
| ISSN: | 0009-9163 |
| Popis: | The classical features of Kallmann syndrome with anosmia and hypogonadotropic hypogonadism were observed in two sisters aged 13 and 19. They had additional malformations including anosmia, bilateral vesico-ureteral reflux and unilateral hearing loss. One of the girls had unilateral coloboma of the optic nerve. The father had unilateral hearing loss and duplication of the left ureter; he died of an unrecognized coarctation of the aorta. He had no clinical signs of hypogonadism or anosmia. It is suggested that the malformations observed in these patients may be due to a dominant inherited defect of embryonic cell migration, resulting in different phenotypic expressions within the same family, including the Kallmann syndrome. |
| Databáze: | OpenAIRE |
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