{Reference Type}: Case Reports
{Title}: A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome.
{Author}: Dulay AL;Tan RJD;
{Journal}: Acta Med Philipp
{Volume}: 58
{Issue}: 4
{Year}: 2024
暂无{DOI}: 10.47895/amp.vi0.6982
{Abstract}: Childhood cataract is a common cause of visual impairment. Familial types are uncommon among Filipinos. Furthermore, it is not common to have one that follows an autosomal dominant pattern of inheritance but with associated syndromic presentation like Roberts syndrome which is an autosomal recessive disorder. This is a case of a 9-year-old Filipino boy with cataract in the left eye associated with low-set ears, facial asymmetry, underdeveloped nasal ala, cleft lip and palate, macroglossia, micrognathia, short right shin, and absent feet. Patient was clinically diagnosed with Roberts syndrome. We present a clinically diagnosed Roberts syndrome (RS), the first reported RS in a Filipino in local and international literature to our knowledge with an autosomal dominant childhood cataract. Genetic testing can assist in the confirmation of this case.