CareLit Fachartikel
3M-Syndrom (OMIM 273750): Miller-McKusick-Malvaux-Syndrom - Fallbericht
P. Fehlow · Klinische Pädiatrie · 2006 · Heft 05 · S. 287-291
Dokument
1072406
CareLit-ID
Jahr
2006
Publikation
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Metadaten
DOI
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Zusammenfassung
Abstract BACKGROUND: This case report shall draw attention to a still little known syndrome of primordial nanism. It is important for the differenzialdiagnosis on the genetic counselling, specially with regard to the Silver-Russell syndrome. CASE REPORT: A striking mentally retarded (I. Q. 54) 9-year-old boy with primordial proportionate short stature exhibited characteristic features of the 3M syndrome (MMM): pseudohydrocephalic dolichocephalia, short neck with protruding muscles, transversal furrow in the lower thorax, muscular hypotonia with joint laxity - “falling hands”, radiographic manifestations included…
Schlagworte
3M-Syndrom
Kleinwuchs
geistige Entwicklungsstörung
Muskelhypotonie
3M syndrome
short stature
mental retardation
muscular hypotonia
Attention
Klinische Pädiatrie
