title: A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?
abstract: Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10 months of age have been reported. Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. He had no major health problems over the course of 8 years of follow-up, except for mild mental/motor retardation, ichthyosis, facial dysmorphic features and limb anomalies. Based on these features, we suggest that because Neu-Laxova syndrome represents a heterogeneous phenotype, our case may be a milder variant of this syndrome or a new genetic entity.
authors.affiliation: Department of Dermatology, Başkent University Faculty of Medicine, Ankara, Turkey.
authors.forename: Deren
authors.initials: D
authors.lastname: Ozcan
authors.affiliation: Department of Pediatrics, Başkent University Faculty of Medicine, Ankara, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Derbent
authors.affiliation: Department of Dermatology, Başkent University Faculty of Medicine, Ankara, Turkey.
authors.forename: Deniz
authors.initials: D
authors.lastname: Seçkin
authors.affiliation: Department of Pediatrics, Başkent University Faculty of Medicine, Ankara, Turkey.
authors.forename: Yunus Emre
authors.initials: YE
authors.lastname: Bikmaz
authors.affiliation: Department of Radiology, Başkent University Faculty of Medicine, Ankara, Turkey.
authors.forename: Muhteşem
authors.initials: M
authors.lastname: Ağildere
authors.affiliation: Génétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France.
authors.forename: Annachiara
authors.initials: A
authors.lastname: De Sandre-Giovannoli
authors.affiliation: Génétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lévy
authors.affiliation: Department of Pediatrics, Başkent University Faculty of Medicine, Ankara, Turkey.
authors.forename: Berkan
authors.initials: B
authors.lastname: Gürakan
keywords: Collodion baby; Ichthyosis; Neu Laxova syndrome