The Dubowitz syndrome.
The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia. Further findings include hyperactivity, eczema, cryptorchidism in the affected males, and brachy-clinodactyly of the fifth fingers. Thirty-three cases with this syndrome have been reported in the literature. Five additional patients are presented. All five are sporadic cases. The diagnostic symptoms and the differential diagnosis are discussed.
Küster
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Majewski
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D000015:Abnormalities, Multiple; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D006948:Hyperkinesis; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D008831:Microcephaly; D011247:Pregnancy; D013577:Syndrome