Cargando…
A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?
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. Alt...
Autores principales: | Özcan, Deren, Derbent, Murat, Seçkin, Deniz, Bikmaz, Yunus Emre, Ağildere, Muhteşem, De Sandre-Giovannoli, Annachiara, Lévy, Nicolas, Gürakan, Berkan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Dermatological Association; The Korean Society for Investigative Dermatology
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870219/ https://www.ncbi.nlm.nih.gov/pubmed/24371398 http://dx.doi.org/10.5021/ad.2013.25.4.483 |
Ejemplares similares
-
A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia
por: Barekatain, Behzad, et al.
Publicado: (2018) -
Prenatal Diagnosis of Neu–Laxova Syndrome
por: Serrano Olave, Adriana, et al.
Publicado: (2022) -
Prenatal diagnosis of Neu-Laxova syndrome: a case report
por: Aslan, Halil, et al.
Publicado: (2002) -
Pachygyria Presented as Mania
por: Chatterjee, Seshadri Sekhar, et al.
Publicado: (2015) -
Collodion baby
por: Sharma, Seema, et al.
Publicado: (2011)