CAMERA - MARUGO - COHEN SYNDROME - REPORT OF A CASE
Tincheva R.
*Corresponding Author: : Dr.Radka Tincheva,Department of Clinical Genetics University Pediatric Hospital- Sofia, Blvd.Ivan Geshov 11, 1606 Sofia, Bulgaria; Tel.+359 2 954 61 01; E-mail: drrtincheva@hotmail.com
page: 61

DISCUSSION

 The first diagnosis on this patient was Prader- Willi syndrome based on the criteria of obesity, hypotonia and mental retardation.   The second evaluation  was ? by learning problems immature speech  and maladaptive behaviour. At this time the facial dysmorphism was characteristic for Cohen syndrome  but two main criteria for this diagnosis were  missing - microcephalia and neutropenia. More confusing was the hemihypotrophia, which persisted and which could be explained by cell mosaicism(3). The findings common to our patient and that  of Camera et al.(1) are mental retardation, truncal obesity, camptodactyly, clinodactyly, and normal chromosomes. Our patient resembles the two patients described by Lambert et al.(2) in having  muscle weakness and  prominent forehead with characteristic face and body asymmetry.  We consider that our patient is the fourth instance of the Camera-Marugo-Cohen symdrome.

 

 

 

 

 

 

Figure 1. Photos of the patient at the age of 9.

 

 

 




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