Spondyloepiphyseal Dysplasia Congenita

Tg, Murray; Wr, Green; Ih, Maumenee; Se, Kopits

doi:10.1001/archopht.1985.01050030103032

Cited by 12 publications

(2 citation statements)

References 7 publications

(1 reference statement)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…SED may be associated with other abnormalities such as conductive hearing loss [13], diabetes mellitus [14], mental retardation [15], and various ocular disturbances [16,17],…”

Section: Discussionmentioning

confidence: 43%

Focal Glomerular Sclerosis and Nephrotic Syndrome in Spondyloepiphyseal Dysplasia

Bogdanović

Komar²,

Cvorić³

et al. 1994

Nephron

View full text Add to dashboard Cite

The association of a spondyloepiphyseal dysplasia and disproportionate short stature with focal glomerular sclerosis is reported in two girls. Renal disease manifested by proteinuria at the age of 2.5 and 11 years, leading to treatment-resistant nephrotic syndrome over 15 and 45 months, respectively. One patient went into end-stage renal failure shortly after nephrotic syndrome developed, the other died from sepsis. The association of spondyloepiphyseal dysplasia and focal glomerular sclerosis with nephrotic syndrome may represent a distinct disease entity.

show abstract

“…SED may be associated with other abnormalities such as conductive hearing loss [13], diabetes mellitus [14], mental retardation [15], and various ocular disturbances [16,17],…”

Section: Discussionmentioning

confidence: 43%

Focal Glomerular Sclerosis and Nephrotic Syndrome in Spondyloepiphyseal Dysplasia

Bogdanović

Komar²,

Cvorić³

et al. 1994

Nephron

View full text Add to dashboard Cite

show abstract

“…RPE cells have features similar to those of primitive neural stem cells. It has been reported that when the retina is damaged, RPE cells migrate to the damage site, thus repairing the tissue [ 10 ]. Del Monte et al [ 11 ] reported that RPE cells migrate to the retina in cases of Sanfilippo’s syndrome, in which cyst formation is observed in the retina and other tissues.…”

Section: Discussionmentioning

confidence: 99%

Involvement of the Retinal Pigment Epithelium in the Development of Retinal Lattice Degeneration

Mizuno

Fukumoto

Sato

et al. 2020

IJMS

View full text Add to dashboard Cite

Lattice degeneration involves thinning of the retina that occurs over time. Here we performed an immunohistological study of tissue sections of human peripheral retinal lattice degeneration to investigate if retinal pigment epithelium (RPE) cells are involved in the pathogenesis of this condition. In two cases of retinal detachment with a large tear that underwent vitreous surgery, retinal lattice degeneration tissue specimens were collected during surgery. In the obtained specimens, both whole mounts and horizontal section slices were prepared, and immunostaining was then performed with hematoxylin and antibodies against glial fibrillary acidic protein (GFAP), RPE-specific protein 65 kDa (RPE65), pan-cytokeratin (pan-CK), and CK18. Hematoxylin staining showed no nuclei in the center of the degenerative lesion, thus suggesting the possibility of the occurrence of apoptosis. In the degenerative lesion specimens, GFAP staining was observed in the center, RPE65 staining was observed in the slightly peripheral region, and pan-CK staining was observed in all areas. However, no obvious CK18 staining was observed. In a monkey retina used as the control specimen of a normal healthy retina, no RPE65 or pan-CK staining was observed in the neural retina. Our findings suggest that migration, proliferation, and differentiation of RPE cells might be involved in the repair of retinal lattice degeneration.

show abstract

Respiratory complications in children with spondyloepiphyseal dysplasia congenita

Harding

Green

Perloff

et al. 1990

Pediatric Pulmonology

View full text Add to dashboard Cite

Mild respiratory distress at birth is a common occurrence in infants with spondyloepiphyseal dysplasia congenita (SEDC) while severe respiratory insufficiency and death have been reported only rarely. We describe three infants with SEDC who experienced severe respiratory complications and required tracheostomies. Two of these infants have also needed long-term continuous positive airway pressure to maintain adequate ventilation. The features and clinical course of these children are described, previous reports of respiratory complications in SEDC are summarized, mechanisms resulting in respiratory problems in SEDC are postulated, and comparison is made with mechanisms giving rise to respiratory risks in other skeletal dysplasias.

show abstract

Spondyloepiphyseal Dysplasia Congenita

Cited by 12 publications

References 7 publications

Focal Glomerular Sclerosis and Nephrotic Syndrome in Spondyloepiphyseal Dysplasia

Focal Glomerular Sclerosis and Nephrotic Syndrome in Spondyloepiphyseal Dysplasia

Involvement of the Retinal Pigment Epithelium in the Development of Retinal Lattice Degeneration

Respiratory complications in children with spondyloepiphyseal dysplasia congenita

Contact Info

Product

Resources

About