Skeletal and Neurological Features of Seckel Syndrome and Microcephalic Osteodysplastic Primodrial Dwarfism – A Review of the Literature
Sign Up to like & getrecommendations! Published in 2020 at "Asian Journal of Psychiatry"
DOI: 10.11648/j.ajp.20200603.44
Abstract: Backround: Primordial dwarfism is a rare disease pattern that is notable due to its clinical appearance. The first description was made in 1960 and created the initial image of the "bird-like" face with severe growth… read more here.
Keywords: dwarfism; primordial dwarfism; review; microcephalic osteodysplastic ... See more keywords
Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
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DOI: 10.1186/s12920-022-01226-8
Abstract: Background Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II is an autosomal recessive condition encompassing a heterogeneous group of disorders characterized by symmetrical growth retardation leading to dwarfism, microcephaly, and a range of multiple medical complications… read more here.
Keywords: osteodysplastic primordial; dwarfism; mopd type; microcephalic osteodysplastic ... See more keywords