Gunn rats, a mutant strain of rats, suffer from autosomal recessive hyperbilirubinemia. The homozygotes (j/j) develop jaundice soon after birth and often exhibit kernicterus and cerebellar hypoplasia that are due to bilirubin. Therefore, j/j Gunn rats have been used as an animal model of bilirubin encephalopathy, as well as of neonatal hyperbilirubinemia. In this review, we discuss morphologica...

To report a case of bilateral isolated foveal hypoplasia in which multimodal imaging was used to confirm the diagnosis. Fundus autofluorescence imaging, optical coherence tomography (OCT), and fundus fluorescein angiography were used to describe the typical findings of a patient with isolated foveal hypoplasia. Spectral domain OCT showed absence of foveal depression and persistent inner retinal...

Unilateral ovarian hypoplasia is a rare event with unknown true incidence. Our knowledge about this developmental anomaly is limited and based primarily on case reports. Ovarian hypoplasia is usually asymptomatic; it is most commonly diagnosed from laparoscopy for other indications. Here we report two cases of unilateral ovarian hypoplasia in patients who presented to the Continuum Reproductive...

We report a unique case of unilateral cerebellar hypoplasia in a young Chinese girl with osteogenesis imperfecta type IV. Magnetic resonance imaging showed mild basilar invagination and impression. Although unilateral cerebellar hypoplasia and osteogenesis imperfecta may have been coincidental diagnoses, we propose possible mechanisms for unilateral cerebellar hypoplasia secondary to osteogenes...

This case report describes a of isolated (not associated with other anomalies) lower vaginal hypoplasia complicated by megalourethra (urethral dilatation) due to frequent urethral sexual intercourse in regularly menstruating (hypomenorrheic) woman. The patient was 24-year-old woman who underwent transperineal ultrasonography as well magnetic resonance imaging followed sequential cystoscopic and...

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion Mutations in the very low-density lipoprotein receptor VLDLR are responsible for cerebellar hypoplasia with qua-drupedal gait (1). The most likely mechanism leading to this phenotype is that VLDLR deficiency in the brain at a key stage of development precludes the normal formatio...