Brief clinical report and review
We have studied a sibship with one confirmed and three probable cases of the Marden-Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth-breathing; facial deformities and distortions; congenita...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , , |
| التنسيق: | article |
| منشور في: |
1982
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| الوصول للمادة أونلاين: | http://hdl.handle.net/10725/4839 http://dx.doi.org/10.1002/ajmg.1320110303 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320110303/abstract |
| الوسوم: |
إضافة وسم
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| _version_ | 1864513464622383104 |
|---|---|
| author | Deeb, Mary E. |
| author2 | Jaatoul, Nadia Y. Haddad, Nadra E. Khoury, Leila A. Afifi, Adel K. Bahuth, Nadia B. Mikati, Mohammad A. Der Kaloustian, Vazken M. |
| author2_role | author author author author author author author |
| author_facet | Deeb, Mary E. Jaatoul, Nadia Y. Haddad, Nadra E. Khoury, Leila A. Afifi, Adel K. Bahuth, Nadia B. Mikati, Mohammad A. Der Kaloustian, Vazken M. |
| author_role | author |
| dc.creator.none.fl_str_mv | Deeb, Mary E. Jaatoul, Nadia Y. Haddad, Nadra E. Khoury, Leila A. Afifi, Adel K. Bahuth, Nadia B. Mikati, Mohammad A. Der Kaloustian, Vazken M. |
| dc.date.none.fl_str_mv | 1982 2016-11-23T11:17:22Z 2016-11-23T11:17:22Z 2016-11-23 |
| dc.identifier.none.fl_str_mv | 0148-7299 http://hdl.handle.net/10725/4839 http://dx.doi.org/10.1002/ajmg.1320110303 Jaatoul, N. Y., Haddad, N. E., Khoury, L. A., Afifi, A. K., Bahuth, N. B., Deeb, M. E., ... & Der Kaloustian, V. M. (1982). Brief clinical report and review: The Marden‐Walker syndrome. American journal of medical genetics, 11(3), 259-271. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320110303/abstract |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | American Journal of Medical Genetics |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | Brief clinical report and review The Marden-Walker syndrome |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | We have studied a sibship with one confirmed and three probable cases of the Marden-Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth-breathing; facial deformities and distortions; congenital muscle weakness with resulting scoliosis; mild pectus excavatum; camptodactylies and hip and finger joints subluxation. In addition, he had small, apparently low-set and slightly malformed auricles with a unilateral preauricular tag. However, he had no apparent renal or cardiovascular involvement. Results of CPK, EMG, and of histochemical, light microscopic, and ultrastructural studies of muscle biopsy do not suggest a primary myopathy but rather CNS related weakness/hypotonia with small muscle mass and hypoactive DTRs. This pathogenetic hypothesis is confirmed by the presence of severe mental retardation and minor brain changes suggesting cortical atrophy. In five previously reported cases there has been microcephaly. Phenotype analysis does not convince that the MWS is a true malformation syndrome, but rather hints at the possibility of a congenital metabolic dysplasia. Genetic analysis demonstrates autosomal-recessive inheitance in this and two other instances; primarily sporadic occurrence leaves open the possibility of genetic heterogeneity. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_a444d68333fdcec8f21368f871176eb4 |
| identifier_str_mv | 0148-7299 Jaatoul, N. Y., Haddad, N. E., Khoury, L. A., Afifi, A. K., Bahuth, N. B., Deeb, M. E., ... & Der Kaloustian, V. M. (1982). Brief clinical report and review: The Marden‐Walker syndrome. American journal of medical genetics, 11(3), 259-271. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/4839 |
| publishDate | 1982 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | Brief clinical report and reviewThe Marden-Walker syndromeDeeb, Mary E.Jaatoul, Nadia Y.Haddad, Nadra E.Khoury, Leila A.Afifi, Adel K.Bahuth, Nadia B.Mikati, Mohammad A.Der Kaloustian, Vazken M.We have studied a sibship with one confirmed and three probable cases of the Marden-Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth-breathing; facial deformities and distortions; congenital muscle weakness with resulting scoliosis; mild pectus excavatum; camptodactylies and hip and finger joints subluxation. In addition, he had small, apparently low-set and slightly malformed auricles with a unilateral preauricular tag. However, he had no apparent renal or cardiovascular involvement. Results of CPK, EMG, and of histochemical, light microscopic, and ultrastructural studies of muscle biopsy do not suggest a primary myopathy but rather CNS related weakness/hypotonia with small muscle mass and hypoactive DTRs. This pathogenetic hypothesis is confirmed by the presence of severe mental retardation and minor brain changes suggesting cortical atrophy. In five previously reported cases there has been microcephaly. Phenotype analysis does not convince that the MWS is a true malformation syndrome, but rather hints at the possibility of a congenital metabolic dysplasia. Genetic analysis demonstrates autosomal-recessive inheitance in this and two other instances; primarily sporadic occurrence leaves open the possibility of genetic heterogeneity.PublishedN/A2016-11-23T11:17:22Z2016-11-23T11:17:22Z19822016-11-23Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article0148-7299http://hdl.handle.net/10725/4839http://dx.doi.org/10.1002/ajmg.1320110303Jaatoul, N. Y., Haddad, N. E., Khoury, L. A., Afifi, A. K., Bahuth, N. B., Deeb, M. E., ... & Der Kaloustian, V. M. (1982). Brief clinical report and review: The Marden‐Walker syndrome. American journal of medical genetics, 11(3), 259-271.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttp://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320110303/abstractenAmerican Journal of Medical Geneticsinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/48392021-03-19T10:03:21Z |
| spellingShingle | Brief clinical report and review Deeb, Mary E. |
| status_str | publishedVersion |
| title | Brief clinical report and review |
| title_full | Brief clinical report and review |
| title_fullStr | Brief clinical report and review |
| title_full_unstemmed | Brief clinical report and review |
| title_short | Brief clinical report and review |
| title_sort | Brief clinical report and review |
| url | http://hdl.handle.net/10725/4839 http://dx.doi.org/10.1002/ajmg.1320110303 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320110303/abstract |