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...

Postmortem findings in the lungs of two siblings with nonimmune hydrops and lung hypoplasia are presented. In one, a girl, the hypoplasia was severe, with reduced numbers of airway generations and markedly reduced radial alveolar counts. In the other, a boy, the hypoplasia of both airway and alveolar development was mild. The reason for the difference in the growth of the lungs in these two chi...

Relapsing polychondritis (RP) is a rare multisystem disorder. Myelodysplastic syndrome (MDS) with erythroid hypoplasia/aplasia is a rare form of myelodysplasia. Several cases of RP associated with MDS have recently been described. However, RP associated with MDS with erythroid hypoplasia/aplasia has never been reported. There was only one case report of polymyalgia rheumatica associated with MD...