@entity1939 in @entity1 of XXXX with hereditary bone disease.

@entity1 @entity72159 @entity22933 @entity11810 @entity174 @entity1713 @entity72160 @entity245 @entity8950 @entity1939 @entity79 @entity2331 @entity48178 @entity13034 @entity3917 @entity2525
Mono- and bi-allelic mutations in the @entity8950 ( @entity8950 ) may cause @entity2525 , autosomal dominant and recessive exudative @entity11810 , or @entity22933 ( @entity22933 ). We report on a @entity1 affected with @entity22933 and carrying compound mutations. The father carried the splice mutation and suffered from severe @entity79 since childhood. The mother carried the missense mutation without any clinical manifestations. The genetic diagnosis of their @entity1 allowed for appropriate treatment in the father and for the detection of @entity2331 in the mother. Mono- and bi-allelic mutations in @entity8950 may cause @entity2525 , autosomal dominant and recessive exudative @entity11810 , or @entity22933 . @entity22933 is a component of persistent fetal vasculature of the eye, characterized by highly variable expressivity and resulting in a wide spectrum of anterior and/or posterior @entity245 , which may lead to @entity1939 . We evaluated a family diagnosed with @entity22933 in their only @entity1 . The @entity1 presented @entity3917 during the first 3  weeks of life, followed by leukocoria at 2  months of age. Molecular resequencing of @entity48178 , @entity13034 , and @entity8950 was performed in the @entity1 and segregation of the observed mutations in the parents. At presentation, fundus examination of the @entity1 showed a retrolental mass in the right eye. Ultrasonography revealed @entity1713 in both eyes. Thorough familial analysis revealed that the father suffered from many @entity174 since childhood without specific @entity79 , treatment, or management. The mother was asymptomatic. Molecular analysis in the proband identified two mutations: a @entity72159 splice mutation and @entity72160 missense mutation. We report the case of a @entity1 affected with @entity22933 and carrying compound heterozygous @entity8950 mutations. This genetic diagnosis allowed the clinical diagnosis of the bone problem to be made in the father, resulting in better management of the family. It also enabled preventive treatment to be prescribed for the mother and accurate genetic counseling to be provided.
