Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: Possible familial RHYNS syndrome

American Journal of Medical Genetics

Volumn 101, Issue 2, 2001, Pages 142-145

  Hedera, Peter ^a   Gorski, Jerome L ^a,b  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Growth hormone deficiency; Hypopituitarism; Retinitis pigmentosa; RHYNS; Skeletal dysplasia

Indexed keywords

ADOLESCENT; ARTICLE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; FAMILIAL DISEASE; GROWTH HORMONE DEFICIENCY; HAND RADIOGRAPHY; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RHYNS SYNDROME; SYNDROME DELINEATION; X CHROMOSOME RECESSIVE INHERITANCE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; FAMILY HEALTH; GROWTH HORMONE; HUMANS; HYPOPITUITARISM; KIDNEY DISEASES, CYSTIC; MALE; OSTEOCHONDRODYSPLASIAS; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0035877183     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1338     Document Type: Article

References (15)

1. Retinal degeneration combined with obesity and neurogenic deafness: A specific syndrome (not hitherto described) distinct from Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree
2. Growth hormone deficiency in two siblings with Alstrom syndrome
3. Urographic findings in Laurence-Moon-Biedl syndrome
4. New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of population survey
5. Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis
6. Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins
7. Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): A new syndrome?
8. Hereditary renal dysplasia and blindness
9. Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities
10. Hereditary sclerosing glomerulopathy in the conorenal syndrome
11. Juvenile nephronophthisis associated with retinary pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities
12. Nephronophthisis and tapetoretinal degeneration with liver fibrosis
13. The Bardet-Biedl syndrome and related disorders
14. Hereditary renal-retinal dysplasia
15. Juvenile familial nephropathy with tapetoretinal degeneration: A new oculorenal dystrophy