Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): second report in a Mexican patient

American Journal of Medical Genetics. Part a
L E Becerra-SolanoJ E García-Ortiz

Abstract

Mesomelic dysplasias (MD) are a group of skeletal disorders with exclusive or predominant shortness of the middle segment of the limbs, with or without involvement of the hands/feet or other body parts. Short stature is a usual consequence due to involvement of the lower limbs. In 2003, Camera and Camera reported an unusual upper limb MD with normal stature and radiological evidence of long bone metaphyseal dysplasia. Here, we describe a Mexican patient showing a similar clinical and radiological phenotype, in addition to esophageal atresia, palpebral ptosis and slight lower limb asymmetry. This represents the second case reported in the literature, corroborating the existence of this rare entity.

References

Dec 11, 1992·American Journal of Medical Genetics·P N KantaputraL O Langer
Mar 1, 1989·American Journal of Medical Genetics·P MaroteauxJ P Farriaux
Jan 1, 1987·Clinical Genetics·J GoldblattP Beighton
Oct 1, 1993·American Journal of Medical Genetics·W ReardonR M Winter
Mar 14, 2000·European Journal of Human Genetics : EJHG·S SchillerG A Rappold
Sep 12, 2000·American Journal of Medical Genetics·R SavarirayanR S Lachman
Apr 27, 2002·American Journal of Medical Genetics·Beyhan TüysüzSavas Ungür
Sep 5, 2002·American Journal of Medical Genetics·Charles P VendittiElaine H Zackai
Aug 14, 2003·The Journal of Clinical Endocrinology and Metabolism·Martin RoubicekGabriel Isaac
Oct 21, 2003·Pediatric Radiology·Nursel H ElçiogluJürgen W Spranger
Jan 28, 2004·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Georg C SchwabeStefan Mundlos
Jun 24, 2004·American Journal of Medical Genetics. Part a·Deborah J ShearsChristine Hall
Jul 21, 2004·American Journal of Medical Genetics. Part a·M L KweeJ J P Gille
May 12, 2005·American Journal of Medical Genetics. Part a·Tiong Yang TanRavi Savarirayan
Jun 14, 2005·American Journal of Medical Genetics. Part a·Fatih TufanDenise Horn
Nov 15, 2005·Clinical Genetics·A Mégarbané, I Ghanem
Feb 28, 2006·Development·Steven A Harvey, Malcolm P O Logan
Nov 23, 2006·American Journal of Medical Genetics. Part a·Andrea Superti-Furga, Sheila Unger
Dec 2, 2006·Development·Peleg HassonMalcolm P O Logan

❮ 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.