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Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?
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1997
Year
Down SyndromeThumb HypoplasiaDevelopmental AnomalyDorsal EdemaGenetic DisorderPediatricsPathologyCongenital DisordersExtreme MicrocephalySevere GrowthMild ManifestationsDermatologyAbnormal DevelopmentNeuropathologyMedicineMental Retardation
Two brothers with congenital microcephaly, growth and mental retardation, flexion contractures, dorsal edema of hands and feet, and ichthyotic skin changes are described. Mild manifestations of Neu-Laxova syndrome have to be considered but long survival and only mild intrauterine growth retardation not described in this syndrome may be evidence of a different condition.