A Japanese patient with the Dubowitz syndrome.
A 2-year-old Japanese male whose clinical features included intrauterine and postnatal growth retardation, mild mental retardation, microcephaly and characteristic facial appearance including sloping forehead, blepharophimosis, ptosis of unilateral eyelid, broad nasal bridge, dysplastic auricles, and retrognathia, is presented. The clinical findings of this patient are strikingly similar to those of patients with the Dubowitz syndrome. However, all reported cases with the Dubowitz syndrome are Caucasians. This syndrome may be diagnosed even in sporadic cases of any ethnic groups based on the characteristic features.
D002648:Child; D004485:Eczema / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D008297:Male; D013577:Syndrome