title: 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?
abstract: 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.
authors.affiliation: Institut für Humangenetik und Kinderklinik, Virchow-Klinikum der Humboldt-Universität, Berlin, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Horn
authors.forename: D
authors.initials: D
authors.lastname: Müller
authors.forename: H
authors.initials: H
authors.lastname: Thiele
authors.forename: J
authors.initials: J
authors.lastname: Kunze
mesh_terms: D003286:Contracture; D006130:Growth Disorders; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D008831:Microcephaly; D012868:Skin Abnormalities; D013577:Syndrome