Abstract |
Here we report two brothers with retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia. We propose that their clinical picture is consistent with RHYNS syndrome ( retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia) and that they represent the first instance of a familial occurrence of this syndrome. The presence of RHYNS in two siblings supports an autosomal recessive mode of inheritance; however, since all four known cases were male, an X-linked mode of inheritance cannot be excluded. The combination of clinical features found in these affected males is unique and supports the existence of RHYNS syndrome as a separate and distinct entity.
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Authors | P Hedera, J L Gorski |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 101
Issue 2
Pg. 142-5
(Jun 15 2001)
ISSN: 0148-7299 [Print] United States |
PMID | 11391657
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright 2001 Wiley-Liss, Inc. |
Chemical References |
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Topics |
- Abnormalities, Multiple
(genetics, pathology)
- Adolescent
- Child
- Family Health
- Growth Hormone
(deficiency)
- Humans
- Hypopituitarism
(pathology)
- Kidney Diseases, Cystic
(pathology)
- Male
- Osteochondrodysplasias
(pathology)
- Retinitis Pigmentosa
(pathology)
- Syndrome
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