Neonatal presentation of Joubert syndrome

Joubert syndrome is a rare genetic disorder with autosomal recessive or rarely X-linked recessive inheritance. Authors are reporting a case of a newborn girl with Joubert syndrome who presented with respiratory distress, hypotonia, hyporeflexia, abnormal eye movements, and facial dysmorphism. Brain MRI revealed vermian hypoplasia, 'molar tooth sign' with 'bat wing appearance' of the fourth ventricle, deepened interpeduncular fossa, and elongated superior cerebellar peduncles. The clinical diagnosis of this syndrome is difficult due to its variable presentation and non-specific presentation. Magnetic Resonance Imaging (MRI) has an important role in the diagnosis of Joubert syndrome. This not only helps in early diagnosis but also helps in appropriate counseling and proper rehabilitation of the baby.

Collodion baby-congenital ichthyosis: clinical review

Collodion baby is a rare form of congenital ichthyosis in which the entire body is covered by a parchment-like membrane. These neonates are at the risk of dehydration, sepsis, electrolyte disturbances, and temperature instability. It is inherited in autosomal recessive manner. We report a case of Collodion baby, born of a consanguineous marriage. Here, we present a short review of this condition and the various methods available for the prenatal diagnosis. A literature search was done using PubMed, Medline, and Google Scholar databases using the mesh terms 'Ichthyosis', 'collodion baby', 'collodion membrane', 'Congenital ichthyosiform erythroderma', and 'Lamellar ichthyosis'.