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