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2014, Number 1

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Rev Cub Gen 2014; 8 (1)

Rhizomelic chondrodysplasia punctata. A case presentation

Chiong QCM, Trull MA, Paz RM, de la Fuente CSM, Angulo CE

Language: Spanish
References: 18
Page: 51-54
PDF size: 290.16 Kb.


ABSTRACT

Rhizomelic Chondrodysplasia Punctata is a rare and severe growth disorder. It is a multisystemic disorder, with recessive autosomal inheritance considering a skeletal dysplasia resulting from a peroxisomal biogenesis flow. It is characterized by low stature, flat facies, congenital cataract, severe rhizomelic limb shortening and psychomotor development retardation. A three month nursing baby, born of a normal pelvic parturition is reported to display these characteristics. The patient was diagnosed clinically and radiologically by applying the clinical method through the comparative technique, which highlighted the significance of such a method for low-prevalence disorders in which a great genetic heterogeneity is present. The importance of carrying on an exhaustive ultrasonographic exam in the first and second trimesters of gestation in order to achieve the early prenatal diagnosis of this disorder is emphasized. Also, the importance of periodical follow-up care and multidisciplinary assessment in order to improve patient care and family counsel is remarked.


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