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The Dubowitz syndrome, first reported in 1965, is defined as a multiple congenital anomalies (MCA), mental retardation (MR), growth failure condition with immune defect predisposing to allergies and eczema, hematologic malignancies and neuroblastoma. Clinical manifestations include pre- and postnatal growth retadation, microcephaly, mild to moderate mental retardation, and eczema. The patients are often hyperactive with short attention span. Facial appearance is characteristic with high or sloping forehead, flat supraorbital ridge, scanty lateral eyebrows, short palpebral fissures, ptosis, abnormally modeled ears, broad and flat nasal bridge, and unusual configuration of the mouth. Genital abnormalities include hypospadias and cryptorchidism. Affected individuals may also have sacral dimple, clinodactyly of the 5th fingers, and cutaneous syndactyly of the 2nd and 3rd toes. To date, more than 150 patients with this condition have been reported. The pathogenesis is unknown. The condition appears to be an autosomal recessive trait.
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