Cargando…

A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate

Rhizomelic chondrodysplasia punctata (RCDP) is a rare, multisystem, autosomal recessive, peroxisomal disorder of a family of congenital disorders known as chondrodysplasia calcificans punctate (CCP). RCDP is characterized by disproportionately short extremities (rhizomelia), congenital cataracts, an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Javaid, Haroon A, Fawzy, Nader A, Mostafa, Ramy, Shehata, Nabil
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9767646/ https://www.ncbi.nlm.nih.gov/pubmed/36561594 http://dx.doi.org/10.7759/cureus.31702

Ejemplares similares

The neurology of rhizomelic chondrodysplasia punctata
por: Bams-Mengerink, Annemieke M, et al.
Publicado: (2013)

Rare Case of Rhizomelic Chondrodysplasia Punctata
por: Mahale, Yashwant, et al.
Publicado: (2015)

A Case of Rhizomelic Chondrodysplasia Punctata in Newborn
por: Karabayır, Nalan, et al.
Publicado: (2014)

An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn
por: Chatterjee, Sitangshu, et al.
Publicado: (2013)

Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
por: Chhavi, Nanda, et al.
Publicado: (2012)

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata
por: Cordisco, Adalgisa, et al.
Publicado: (2021)

A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report
por: Shawli, Aiman M, et al.
Publicado: (2021)

Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy
por: Samanta, Debopam
Publicado: (2019)

Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene
por: Sayed, Jamal, et al.
Publicado: (2023)

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene
por: Çim, Abdullah, et al.
Publicado: (2015)

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata
por: Luisman, Tarik, et al.
Publicado: (2021)

Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata
por: Fallatah, Wedad, et al.
Publicado: (2020)

Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome
por: Liegel, Ryan P., et al.
Publicado: (2014)

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
por: Jacobsen, Jessie C., et al.
Publicado: (2015)

Chondrodysplasia Punctata with Severe Airway Stenosis
por: Deepthi, Bobbity, et al.
Publicado: (2018)

Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis
por: Sanfilippo, Andrea, et al.
Publicado: (2015)

A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1
por: Fallatah, Wedad, et al.
Publicado: (2022)

Severe phenotype of X‐linked dominant chondrodysplasia punctata
por: Damseh, Nadirah, et al.
Publicado: (2017)

Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE
por: Zhang, Li, et al.
Publicado: (2021)

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review
por: Alrukban, Hadeel, et al.
Publicado: (2018)

Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata
por: Fujimoto, Yoh, et al.
Publicado: (2019)

X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report
por: Liu, Yan, et al.
Publicado: (2019)

Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature
por: Jurkiewicz, Elżbieta, et al.
Publicado: (2013)

Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case
por: Patel, Nirali P, et al.
Publicado: (2023)

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss
por: Vrečar, Irena, et al.
Publicado: (2015)

Ultrasound Findings in a Neonate During Anaphylactic Reaction to Total Parenteral Nutrition: A Case Report
por: Zaman, Linah H, et al.
Publicado: (2023)

Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis
por: Dubail, Johanne, et al.
Publicado: (2021)

Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation
por: He, Guannan, et al.
Publicado: (2019)

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor
por: Wood, Paul L, et al.
Publicado: (2011)

Pseudoachondroplasia: A rare cause of rhizomelic dwarfism
por: Tandon, Anupama, et al.
Publicado: (2008)

Paraplegia in Chondrodysplasia
Publicado: (1927)

Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation
por: HASEGAWA, Akito, et al.
Publicado: (2021)

Hereditary Chondrodysplasia. With a Case Report
por: Das, Amal, et al.
Publicado: (1948)

Acne Punctata
Publicado: (1881)

Grubs in the Face—Acne Punctata
Publicado: (1867)

On the Sulfation Pattern of Polysaccharides in the Extracellular Matrix of Sheep with Chondrodysplasia
por: Piripi, S.A., et al.
Publicado: (2011)

Functional neuroanatomy of the rhinophore of Aplysia punctata
por: Wertz, Adrian, et al.
Publicado: (2006)

Isolation and Characterization of an Aeromonas punctata Bacteriophage
por: Kai, Cheng, et al.
Publicado: (2015)

Hydrometrocolpos With Polydactyly in Consanguineous Parents: A Case Report and Review of Literature
por: Khalil, Touqa, et al.
Publicado: (2023)

Ischiopubic and odontoid synchondrosis in a boy with progressive pseudorheumatoid chondrodysplasia
por: Al Kaissi, Ali, et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_rghgri1c0rs1k49q2balpgn9k7