A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa

American Journal of Medical Genetics. Part a
A MégarbanéLinda Daou

Abstract

A girl with severe pre- and post-natal short stature, low-pitched voice, retinitis pigmentosa, photophobia, short neck, broad thorax, platyspondyly, rhizomelic shortening of the long bones, bilateral subluxation of the hips, advanced maturation of the epiphyses, and apparently normal intellectual development is described. The girl's parents are first cousins. Two subsequent pregnancies had ended in spontaneous abortion with polyhydramnios and severe growth retardation. To the best of our knowledge, this association had not been previously reported, and may be considered a newly recognized syndrome.

References

Mar 1, 1989·American Journal of Medical Genetics·P MaroteauxJ P Farriaux
Jul 1, 1984·American Journal of Medical Genetics·M Barrow, J S Fitzsimmons
Jan 1, 1993·Pediatric Radiology·A BaxovaI Netriova
May 3, 1996·American Journal of Medical Genetics·H MengerB Zabel
Oct 23, 2001·Clinical Dysmorphology·T BieganskiK Kozlowski

❮ Previous
Next ❯

Citations

Nov 18, 2008·American Journal of Medical Genetics. Part a·Sérgio B SousaRaoul C M Hennekam
May 15, 2008·American Journal of Medical Genetics. Part a·Bertrand IsidorAlbert David
Jun 14, 2006·American Journal of Medical Genetics. Part a·André MégarbanéFernand Dagher
Mar 18, 2011·American Journal of Medical Genetics. Part a·Hiroshi KitohGen Nishimura
Sep 13, 2011·American Journal of Medical Genetics. Part a·Shigeru SuzukiGen Nishimura
May 27, 2010·American Journal of Medical Genetics. Part a·Bertrand IsidorMartine Le Merrer

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.