Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus.

Clinical Genetics
R B Lowry, B J Wood

Abstract

This report describes two brothers with short stature, congenital nystagmus and microcephaly. The radiographic findings disclosed small, irregularly shaped epiphyses, square iliac bones and flattened acetabulae. The humeri and femora were short. The parents were normal. The syndrome is possibly X-linked, or autosomal recessive in origin.

References

Feb 1, 1974·The British Journal of Radiology·B J Cremin, P Beighton
Feb 1, 1974·The Journal of Pediatrics·A J AmmannE Millinchick

❮ Previous
Next ❯

Citations

Jul 1, 1989·American Journal of Medical Genetics·R B LowryM R Hayden
Jun 14, 2006·American Journal of Medical Genetics. Part a·André MégarbanéFernand Dagher
Nov 18, 2008·American Journal of Medical Genetics. Part a·Sérgio B SousaRaoul C M Hennekam
Feb 28, 2003·American Journal of Medical Genetics. Part a·Nicola Brunetti-PierriGianfranco Sebastio
Apr 23, 2008·International Ophthalmology Clinics·Marc J Dinkin, Joseph F Rizzo
Jun 9, 2006·Clinical Dysmorphology·Víctor Martínez-GlezIsidora López Pajares
Mar 17, 2009·American Journal of Medical Genetics. Part a·Cinzia MagnaniGiulio Bevilacqua
Dec 22, 2017·American Journal of Medical Genetics. Part a·Laura S FarachMichael Bober
Mar 1, 1991·Developmental Medicine and Child Neurology·C Dorman
May 15, 2008·American Journal of Medical Genetics. Part a·Bertrand IsidorAlbert David

❮ 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.