19. DUBOWITZ SYNDROME AND PARTIAL DELETION 4q(q28→q313)

Abstract

Dubowitz Syndrome presumed autosomal recessive etiology, is characterized by intrauterine growth retardation, unusual facies, marked microcephaly, moderate mental retardation aid eczema. A nine year old girl with Dubowitz Syndrome and an abnormal-46, XX, del (4q) (q28→q313) karyotype is described. The child was the product of the second uneventfull pregnancy of non-consanguineous healthy parents. She was small for date and developed growth retardation, peculiar facies, eczema of the scalp skin and generalised skin rash. Her psycomotor development was normal. Physical examination showed low height, weight and head circumference, beside several minor anomalies such as: unusual facies, sparce hair, bilateral palpebral epicanthus, hignly arched palate, marked micrognathia, lew set small malrotated dysplastic ears, increased intermamillary distance, syndactyly of the second and third toes, scoliosis and pes planus. Parent's chromosomal analysis with high resolution methodology were interpreted as normal, although a paracentric inversion involving the deleted chromosomal segment of the propositus could not be totally ruled out. The different cases of deletions of 4q chromosome reviewed, allows us to suggest that Dubowitz Syndrome phenotype may be due to a partial deficiency of the long arm of chromosome number 4, from 4028 to 40313.