Comorbidities in children with cerebral palsy: a single-centre cross-sectional hospital-based study from India.

Objective: To describe the comorbidities in children with cerebral palsy (CP) and determine the characteristics associated with different impairments.

Design: Cross-sectional study.

Setting: Tertiary care referral centre in India.

Clinical and molecular spectrum associated with Polymerase-γ related disorders.

Background: pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in -related disorders are sparse. This study maps the clinicogenetic spectrum of -related disorders in the pediatric population.

Acute lymphoblastic leukemia with treatment--naive Fanconi anemia.

Fanconi anemia is known to have a predisposition to cancer, mostly associated with acute myeloid leukemia. We report an eight year old girl with treatment and naive FA who developed acute lymphoblastic leukemia. She was initiated on chemotherapy but she failed to respond to treatment and died during induction phase of chemotherapy.

A case of 9p deletion syndrome with Duane retraction syndrome.

The chromosome 9p deletion syndrome is a rare but specific clinical event. The clinical manifestations include dysmorphic facial features (trigonocephaly, midface hypoplasia, upward slanting palpebral fissures, and a long philtrum) and psychomotor retardation. Here we report a child with chromosome 9p deletion with Duane retraction syndrome, which has never been reported in the literature before.