Cargando…
A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)
Patient: Male, 10-year-old Final Diagnosis: MOPD type II Symptoms: Short height • psico motor delay Medication: — Clinical Procedure: — Specialty: Genetics • Radiology OBJECTIVE: Rare disease BACKGROUND: Moyamoya syndrome is a rare cerebrovascular condition caused by blockage of the arteries of the...
Autores principales: | Eslava, Aurora, Garcia-Puig, Montserrat, Corripio, Raquel |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8693238/ https://www.ncbi.nlm.nih.gov/pubmed/34923567 http://dx.doi.org/10.12659/AJCR.933919 |
Ejemplares similares
-
Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
por: Hettiarachchi, D., et al.
Publicado: (2022) -
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review
por: Bober, Michael B., et al.
Publicado: (2017) -
Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review
por: Bober, Michael B., et al.
Publicado: (2017) -
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
por: Duker, Angela L., et al.
Publicado: (2021) -
An Unusual Association of Microcephalic Osteodysplastic Primordial Dwarfism Type I with Cardiac and Brain Anomalies
por: Bhutia, Euden, et al.
Publicado: (2014)