Dubowitz syndrome is an autosomal recessive disorder of growth retardation, microcephaly, mild to moderate mental retardation, and characteristic facial appearance, with a propensity towards frequent infections and eczema. The phenotype can be quite variable, ranging from normal growth, normal head circumference, lack of eczema, and mild psychomotor retardation to a condition of severe growth and mental retardation, microcephaly, and eczema. The molecular and biochemical pathogenesis of Dubowitz syndrome is unknown, and although well-characterized, the diagnosis is based on clinical criteria .
We report on a girl born at term to a 21-year-old Caucasian primigravid woman with an uncomplicated pregnancy and unremarkable family history. She had the diagnostic findings of Dubowitz syndrome (Fig. ) including growth retardation, microcephaly, plagiocephaly, triangular face, bilateral ptosis, small palpebral fissures, flat nasal bridge, broad nasal root with anteverted nares, cupped and abormally modeled ears, high palate with sub-mucus cleft, micrognathia, sparse hair and eyebrows, pectus excavatum, sacral pit, and 2-3 toe syndactyly. Cardiovascular, abdominal, and genital findings were unremarkable. She had a history of facial eczema during the first 4 months of life, feeding difficulties, and several respiratory infections in the first year of life. Developmental evaluation at the age of 1 year revealed only mild speech delay.
Diagnostic work-up yielded normal results for the following: normal 46,XX karyotype, a FISH analysis for chromosome 22q11 deletions, urine organic acids, plasma acylcarnitine profile, thyroid function, growth hormone studies, plasma zinc, Vitamin A and E levels, immunoglobulin levels, and sialotransferrin assay. Chest radiograph demonstrated that all of the ribs were gracile, and there was absence of the posterior portion of two left ribs and one right rib. In addition, the 12th thoracic vertebra had a single rib on the left and there was a "butterfly-vertebra" at T8. No other