A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?
Annals of Dermatology
;
: 483-488, 2013.
Article
Dans Anglais
| WPRIM
| ID: wpr-123642
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Phénotype
/
Peau
/
Malformations multiples
/
Encéphalopathies
/
Système nerveux central
/
Études de suivi
/
Ichtyose lamellaire
/
Collodion
/
Anomalies morphologiques congénitales des membres
/
Oedème
Type d'étude:
Étude observationnelle
/
Étude pronostique
Limites du sujet:
Enfant
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Annals of Dermatology
Année:
2013
Type:
Article
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