A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly.
Lissencephaly is a rare brain malformation. What differentiates microlissencephaly from classical lissencephaly and other variants is the presence of severe microcephaly. Very few postnatal cases of Norman-Roberts syndrome are described in the literature. We report a case of microlissencephaly with a polymalformative syndrome that prompted postnatal diagnosis of Norman-Roberts syndrome.
Department of Neonatology, Assistance Publique-Hôpitaux de Marseille, North University Hospital , Marseille , France.
Barthélémy
B
Tosello
Véronique
V
Brévaut-Malaty
Kathia
K
Chaumoître
Catherine
C
Gire
D000015:Abnormalities, Multiple / Q000473:pathology*; D005260:Female; D006801:Humans; D054082:Lissencephaly / Q000473:pathology*; D008831:Microcephaly / Q000473:pathology*; D011247:Pregnancy
Norman–Roberts syndrome; microcephaly; postnatal diagnosis; rare disease