Abstract
The Laurence-Moon-Biedl syndrome is characterized by features of familial occurrence, retinitis pigmentosa, obesity, polydactyly, hypogenitalism and mental retardation. Recently, several reports have suggested renal abnormalities as an additional cardinal feature of the syndrome. We present two cases of this syndrome from two different families. The first case was an obese eight-year-old girl with poor vision and signs of mental retardation beginning at four months of age. An intravenous urogram showed dilatation of the minor calyces of both kidneys. Genital agenesis and typical retinitis pigmentosa on fundal examination all supported the diagnosis of Laurence-Moon-Biedl syndrome. The patient's father and grandmother also had symptoms of poor vision, mental retardation and obesity. The second case was an obese 14-year-old girl with blurred vision and severe mental retardation noticed at two to three months of age. Fundi showed typical retinitis pigmentosa. She also had genital agenesis but no significant family history.
| Original language | English |
|---|---|
| Pages (from-to) | 904-906 |
| Number of pages | 3 |
| Journal | Journal of the Formosan Medical Association = Taiwan yi zhi |
| Volume | 92 |
| Issue number | 10 |
| Publication status | Published - Oct 1 1993 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Medicine(all)
Cite this
Laurence-Moon-Biedl syndrome : report of two cases. / Lin, H. S.; Lin, Tzou-Yien.
In: Journal of the Formosan Medical Association = Taiwan yi zhi, Vol. 92, No. 10, 01.10.1993, p. 904-906.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Laurence-Moon-Biedl syndrome
T2 - report of two cases.
AU - Lin, H. S.
AU - Lin, Tzou-Yien
PY - 1993/10/1
Y1 - 1993/10/1
N2 - The Laurence-Moon-Biedl syndrome is characterized by features of familial occurrence, retinitis pigmentosa, obesity, polydactyly, hypogenitalism and mental retardation. Recently, several reports have suggested renal abnormalities as an additional cardinal feature of the syndrome. We present two cases of this syndrome from two different families. The first case was an obese eight-year-old girl with poor vision and signs of mental retardation beginning at four months of age. An intravenous urogram showed dilatation of the minor calyces of both kidneys. Genital agenesis and typical retinitis pigmentosa on fundal examination all supported the diagnosis of Laurence-Moon-Biedl syndrome. The patient's father and grandmother also had symptoms of poor vision, mental retardation and obesity. The second case was an obese 14-year-old girl with blurred vision and severe mental retardation noticed at two to three months of age. Fundi showed typical retinitis pigmentosa. She also had genital agenesis but no significant family history.
AB - The Laurence-Moon-Biedl syndrome is characterized by features of familial occurrence, retinitis pigmentosa, obesity, polydactyly, hypogenitalism and mental retardation. Recently, several reports have suggested renal abnormalities as an additional cardinal feature of the syndrome. We present two cases of this syndrome from two different families. The first case was an obese eight-year-old girl with poor vision and signs of mental retardation beginning at four months of age. An intravenous urogram showed dilatation of the minor calyces of both kidneys. Genital agenesis and typical retinitis pigmentosa on fundal examination all supported the diagnosis of Laurence-Moon-Biedl syndrome. The patient's father and grandmother also had symptoms of poor vision, mental retardation and obesity. The second case was an obese 14-year-old girl with blurred vision and severe mental retardation noticed at two to three months of age. Fundi showed typical retinitis pigmentosa. She also had genital agenesis but no significant family history.
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UR - http://www.scopus.com/inward/citedby.url?scp=0027682924&partnerID=8YFLogxK
M3 - Article
C2 - 7908573
AN - SCOPUS:0027682924
VL - 92
SP - 904
EP - 906
JO - Journal of the Formosan Medical Association
JF - Journal of the Formosan Medical Association
SN - 0929-6646
IS - 10
ER -