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Joubert Syndrome: Monozygotic Twins With Discordant Phenotypes

Department of Neurology, Jacobi and Montefiore Medical Centers, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY, goldraynes{at}aol.com, Department of Pediatrics, Jacobi and Montefiore Medical Centers, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY

Alan Shanske, MD

Department of Pediatrics, Jacobi and Montefiore Medical Centers, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY

Sharon Goldberg, MD

Department of Ophthalmology, Jacobi and Montefiore Medical Centers, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY

Ronald Burde, MD

Department of Ophthalmology, Jacobi and Montefiore Medical Centers, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY

Isabelle Rapin, MD

Department of Neurology, Jacobi and Montefiore Medical Centers, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY, Department of Pediatrics, Jacobi and Montefiore Medical Centers, Albert Einstein College of Medicine of Yeshiva University, Bronx, NY

We describe three sisters with Joubert syndrome, two of whom are monozygotic twins with highly discordant phenotypes. The twins were born at 34 weeks' gestation with discordant birthweights. Their anatomic, neurologic, and developmental status differs greatly: Twin B is able to walk, run, and is verbal, unlike Twin A who is wheelchair-bound, severely retarded, nonverbal, and autistic. Abnormal eye movements and retinal dysplasia are striking features in all three girls, but none has renal cysts seen by ultrasonography. Magnetic resonance images show the "molar tooth sign," the radiologic hallmark of Joubert syndrome, although only one twin, the most severely handicapped, has severe hypoplasia of the cerebellar hemispheres. Phenotypic differences between the twins could be attributable to postzygotic unequal division of the inner cell mass, unequal sharing of the venous return from a monochorionic placenta, mosaicism, or a mutation of a modifying gene. (J Child Neurol 1999;14:649-654).

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