[The Dubowitz syndrome]

Abstract

A 27-month-old girl with Dubowitz syndrome, a rare autosomal recessive disorder, is presented. The diagnosis was established by a series of symptoms typical for this syndrome: intrauterine and postnatal growth retardation, microcephaly, recurrent diarrhea and respiratory infections, characteristic craniofacial anomalies such as epicanthus, nasal dysplasia with broad nasal bridge in line with forehead, thin hair, micrognathia, large mouth, dysplastic ears, brachyclinodactyly, pectus excavatum and pilonidal sinus. Hyperactivity in behaviour was obvious, and she had a very high pitched voice. Sacral cleft and wide opened frontal fontanelle found in our patient could be new signs, not yet seen in this syndrome. Necessity of regular follow-up of these patients is stressed due to the rather high incidence of malignant diseases and diseases of the hematopoetic system, respectively.