ABSTRACT
Dyschondrosteosis is a general disease with a dominant transmission. It is of late discovery ever in the birth. Most frequent at the girl. Clinically it associate an incapacity staturale moderate and deformation of members with the infringement elective of the average segment of the front arm and leg. The gene incriminate in the genese of the disease is the SHOX gene. Its exist in the pseudo-autosomic commun region of chromosom X and Y in X pter-p. 22-3 and Y pter-p. 11-2.. The nature of the disorder is a mutation or a deletion infringement. Prognosis is favorable not justifying mostly any treatment. The radial osteotomy is indicate in case of confusion functional. We bring back an observation of a dyschondrosteosis case
ABSTRACT
Triplo X is a gonosomal disorder. The incidence in the new-born population is approximately 1 per 1000 female infants. The origin of the extra X are scanty although it seems to be mostly maternal. It result from a non disjunction at meiotic division. There is not a special dysmorphie face; we found a large size, mental retardation with difficulty of training of the language. Fertility present in many cases. The diagnostic is carried by the survey of the caryotype. We bring back an observation of triplo X case