| Joubert syndrome associated with Leber amaurosis and multicystic kidneys. | |
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MedLine Citation:
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PMID: 8456821 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a boy with manifestations of Joubert syndrome, Leber congenital amaurosis, and multicystic kidneys. In infants with unexplained neonatal tachypnea and late developmental delay, absence or hypoplasia of the cerebellar vermis should be sought. Joubert syndrome probably is an autosomal recessive disorder. In the subsequent pregnancy of the propositus' mother, we were able to make a prenatal diagnosis of Joubert syndrome, one of the first to be reported. |
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Authors:
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S A Ivarsson; I Bjerre; A Brun; O Ljungberg; E Maly; I Taylor |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 45 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1993 Mar |
Date Detail:
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Created Date: 1993-04-16 Completed Date: 1993-04-16 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 542-7 Citation Subset: IM |
Affiliation:
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University of Lund, Department of Pediatrics, Malmö, Sweden. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cerebellum
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abnormalities Child, Preschool Female Humans Male Optic Atrophies, Hereditary / complications*, diagnosis, genetics Polycystic Kidney Diseases / complications*, diagnosis, genetics Pregnancy Respiratory Tract Diseases / complications*, diagnosis, genetics Syndrome Ultrasonography, Prenatal |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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