Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes
Cormier-Daire, V. ; Wolf, C. ; Munnich, A. ; Merrer, M. Le ; Nivelon, A. ; Bonneau, D. ; Journel, H. ; Fellmann, F. ; Chevy, F. ; Roux, C.
Springer
Published 1996
Springer
Published 1996
| ISSN: |
1432-1076
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|---|---|
| Keywords: |
Key words Smith-Lemli-Opitz ; Lethal acrodysgenital syndrome ; Cholesterol metabolism ; 7-Dehydrocholesterol
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease. Conclusion. The identification of the same biochemical defect in both types of Smith-Lemli-Opitz Syndrome suggests that despite major discrepancies in clinical course and severity, type I and type II SLO are probably allelic disorders.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798295579696037888 |
|---|---|
| autor | Cormier-Daire, V. Wolf, C. Munnich, A. Merrer, M. Le Nivelon, A. Bonneau, D. Journel, H. Fellmann, F. Chevy, F. Roux, C. |
| autorsonst | Cormier-Daire, V. Wolf, C. Munnich, A. Merrer, M. Le Nivelon, A. Bonneau, D. Journel, H. Fellmann, F. Chevy, F. Roux, C. |
| book_url | http://dx.doi.org/10.1007/BF01957147 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM205202845 |
| issn | 1432-1076 |
| journal_name | European journal of pediatrics |
| materialart | 1 |
| notes | Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease. Conclusion. The identification of the same biochemical defect in both types of Smith-Lemli-Opitz Syndrome suggests that despite major discrepancies in clinical course and severity, type I and type II SLO are probably allelic disorders. |
| package_name | Springer |
| publikationsjahr_anzeige | 1996 |
| publikationsjahr_facette | 1996 |
| publikationsjahr_intervall | 8004:1995-1999 |
| publikationsjahr_sort | 1996 |
| publisher | Springer |
| reference | 155 (1996), S. 656-659 |
| schlagwort | Key words Smith-Lemli-Opitz Lethal acrodysgenital syndrome Cholesterol metabolism 7-Dehydrocholesterol |
| search_space | articles |
| shingle_author_1 | Cormier-Daire, V. Wolf, C. Munnich, A. Merrer, M. Le Nivelon, A. Bonneau, D. Journel, H. Fellmann, F. Chevy, F. Roux, C. |
| shingle_author_2 | Cormier-Daire, V. Wolf, C. Munnich, A. Merrer, M. Le Nivelon, A. Bonneau, D. Journel, H. Fellmann, F. Chevy, F. Roux, C. |
| shingle_author_3 | Cormier-Daire, V. Wolf, C. Munnich, A. Merrer, M. Le Nivelon, A. Bonneau, D. Journel, H. Fellmann, F. Chevy, F. Roux, C. |
| shingle_author_4 | Cormier-Daire, V. Wolf, C. Munnich, A. Merrer, M. Le Nivelon, A. Bonneau, D. Journel, H. Fellmann, F. Chevy, F. Roux, C. |
| shingle_catch_all_1 | Cormier-Daire, V. Wolf, C. Munnich, A. Merrer, M. Le Nivelon, A. Bonneau, D. Journel, H. Fellmann, F. Chevy, F. Roux, C. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes Key words Smith-Lemli-Opitz Lethal acrodysgenital syndrome Cholesterol metabolism 7-Dehydrocholesterol Key words Smith-Lemli-Opitz Lethal acrodysgenital syndrome Cholesterol metabolism 7-Dehydrocholesterol Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease. Conclusion. The identification of the same biochemical defect in both types of Smith-Lemli-Opitz Syndrome suggests that despite major discrepancies in clinical course and severity, type I and type II SLO are probably allelic disorders. 1432-1076 14321076 Springer |
| shingle_catch_all_2 | Cormier-Daire, V. Wolf, C. Munnich, A. Merrer, M. Le Nivelon, A. Bonneau, D. Journel, H. Fellmann, F. Chevy, F. Roux, C. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes Key words Smith-Lemli-Opitz Lethal acrodysgenital syndrome Cholesterol metabolism 7-Dehydrocholesterol Key words Smith-Lemli-Opitz Lethal acrodysgenital syndrome Cholesterol metabolism 7-Dehydrocholesterol Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease. Conclusion. The identification of the same biochemical defect in both types of Smith-Lemli-Opitz Syndrome suggests that despite major discrepancies in clinical course and severity, type I and type II SLO are probably allelic disorders. 1432-1076 14321076 Springer |
| shingle_catch_all_3 | Cormier-Daire, V. Wolf, C. Munnich, A. Merrer, M. Le Nivelon, A. Bonneau, D. Journel, H. Fellmann, F. Chevy, F. Roux, C. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes Key words Smith-Lemli-Opitz Lethal acrodysgenital syndrome Cholesterol metabolism 7-Dehydrocholesterol Key words Smith-Lemli-Opitz Lethal acrodysgenital syndrome Cholesterol metabolism 7-Dehydrocholesterol Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease. Conclusion. The identification of the same biochemical defect in both types of Smith-Lemli-Opitz Syndrome suggests that despite major discrepancies in clinical course and severity, type I and type II SLO are probably allelic disorders. 1432-1076 14321076 Springer |
| shingle_catch_all_4 | Cormier-Daire, V. Wolf, C. Munnich, A. Merrer, M. Le Nivelon, A. Bonneau, D. Journel, H. Fellmann, F. Chevy, F. Roux, C. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes Key words Smith-Lemli-Opitz Lethal acrodysgenital syndrome Cholesterol metabolism 7-Dehydrocholesterol Key words Smith-Lemli-Opitz Lethal acrodysgenital syndrome Cholesterol metabolism 7-Dehydrocholesterol Abstract The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease. Conclusion. The identification of the same biochemical defect in both types of Smith-Lemli-Opitz Syndrome suggests that despite major discrepancies in clinical course and severity, type I and type II SLO are probably allelic disorders. 1432-1076 14321076 Springer |
| shingle_title_1 | Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes |
| shingle_title_2 | Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes |
| shingle_title_3 | Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes |
| shingle_title_4 | Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:38:27.465Z |
| titel | Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes |
| titel_suche | Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes |
| topic | WW-YZ |
| uid | nat_lic_papers_NLM205202845 |