| Camera–Marugo–Cohen syndrome | |
|---|---|
| Other names | Obesity, mental retardation, body asymmetry and muscle weakness syndrome[1] |
| Specialty | Medical genetics |
| Symptoms | Obesity, intellectual disabilities, widespread body asymmetry and generalized muscle weakness |
| Usual onset | Post-natal |
| Duration | Life-long |
| Diagnostic method | Physical evaluation |
| Prevention | none |
| Prognosis | Good |
| Frequency | 2 unrelated cases have been reported in medical literature |
| Deaths | - |
Camera–Marugo–Cohen syndrome, also known as Obesity, mental retardation, body asymmetry and muscle weakness syndrome[2] is a very rare genetic disorder which is characterized by familial obesity, intellectual disabilities, body asymmetry, and muscular weakness. It is a type of syndromic obesity/obesity syndrome. 2 cases have been reported in medical literature (there were three, but one of the patients was found to have diploid mixoploidy.)[3]
Etiology
This disorder was discovered in 1993 by Camera et al., when they described a patient with short stature, intellectual disability, hypogonadism, micropenis, camptodactyly, and cleft lip/palate. They came to the conclusion that this was a novel post-natal obesity syndrome.[4]
A second case report was published by Lambert et al. in 1999, whey described 2 un-related patients with generalized obesity, "mental retardation", body asymmetry, muscle weakness, retrognathia, blepharoptosis, hyperlordosis, deviation of the hallux, syndactyly, and camptodactyly.[5]
A comment left in 2001 on the case report described by Lambert et al. (made by no other than Lambert et al. themselves) updated the two patient case report: one of the patients were found to have diploid/triploid mixoploidy, the second patient and the patient described by Camera et al. were unavailable for karyotyping.[6]
References
- ^ "Camera Marugo Cohen syndrome - About the Disease - Genetic and Rare Diseases Information Center". Archived from the original on 2022-05-30. Retrieved 2022-05-30.
- ^ "Camera Marugo Cohen syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2023-11-10. Retrieved 2022-05-30.
- ^ "OMIM Entry - 604257 - CAMERA-MARUGO-COHEN SYNDROME". www.omim.org. Archived from the original on 2023-11-10. Retrieved 2022-05-30.
- ^ Camera, G.; Marugo, M.; Cohen, M. M. (1993-11-01). "Another postnatal-onset obesity syndrome". American Journal of Medical Genetics. 47 (6): 820–822. doi:10.1002/ajmg.1320470605. ISSN 0148-7299. PMID 8279478. Archived from the original on 2022-05-30. Retrieved 2022-05-30.
- ^ Lambert, D. M.; Watters, G.; Andermann, F.; Der Kaloustian, V. M. (1999-09-17). "The Camera-Marugo-Cohen syndrome: report of two new patients". American Journal of Medical Genetics. 86 (3): 208–214. doi:10.1002/(sici)1096-8628(19990917)86:3<208::aid-ajmg3>3.0.co;2-h. ISSN 0148-7299. PMID 10482867. Archived from the original on 2022-05-30. Retrieved 2022-05-30.
- ^ Lambert, D. M.; Watters, G.; Andermann, F.; Der Kaloustian, V. M. (2001-12-15). "Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy". American Journal of Medical Genetics. 104 (4): 343–344. doi:10.1002/ajmg.10074. ISSN 0148-7299. PMID 11754073. Archived from the original on 2022-05-30. Retrieved 2022-05-30.
This page was last edited on 10 November 2023, at 15:30