Publications by authors named "Merve Akillioglu"
Article Synopsis
- Autosomal recessive congenital ichthyosis (ARCI) is a group of skin disorders that lead to the condition known as collodion baby at birth, with subtypes including Harlequin ichthyosis, lamellar ichthyosis, and others.
- A male newborn was diagnosed with non-bullous congenital ichthyosiform erythroderma (NBCIE) and had whole exome sequencing which identified two specific gene variants in a compound heterozygous state.
- This case is notable because it presents the first instance of two genetic variants associated with NBCIE, diverging from the previously reported cases linked to bathing suit ichthyosis (BSI).
Rubella infections are rarely seen where immunization programmes are in place. Congenital rubella syndrome is however still observed where the vaccination programme against rubella is not administered or interrupted. We present such a case, with typical clinical anomalies including congenital cataracts, sensorineural hearing loss and bone lesions.
View Article and Find Full Text PDFObjective: To systematically review and meta-analyze the association between neonatal abstinence syndrome (NAS) and adverse health or educational childhood outcomes.
Study Design: An all-language search was conducted across 11 databases between January 1, 1975, and September 3, 2019; 5865 titles were identified. Observational studies of children between 28 days and 16 years of age, in whom a diagnosis of NAS was documented, were included.