Phenotypic Abnormalities of Eyelashes and Eyebrows in Genetic Syndromes
- Negrean Rodica Anamaria
The purpose of the article is to update information concerning Dubowitz syndrome. A review of the literature since the disorder was originally described in 1965 is presented. In addition, case reports are presented for two siblings described in 1971 describing speech and dental development and current clinical findings. Analysis of approximately 30 cases reveals prevalence of growth failure and delayed bone age, mild microcephaly, broad forehead with sparse frontal hair, telecanthus, blepharophimosis, abnormal pinnae, broad nose, and micrognathia. Overt cleft palate or submucous cleft palate is not a prevalent finding (16%). High-pitched and hoarse voice quality appears to be a constant feature. There is the suggestion of an association with leukemia, lymphoma, and neuroblastoma. Inheritance appears clearly autosomal recessive.