Prenatal screening: perspective for the pediatrician.

Pediatricians are the first contact of a child with genetic disorders such as Down Syndrome. After diagnosis, parents often express and wish that if it was possible to detect it during pregnancy and could it be avoided in the future pregnancy. This makes it essential that pediatricians should have some idea about the basic screening methods and strategy used during pregnancy.

Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome.

Background: Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate.

Case Characteristics: 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year.

Down syndrome with transient myeloproliferative disorder and Beta-thalassemia major.

Down syndrome is the most common chromosomal abnormality and is frequently associated with transient myeloproliferative disorder (TMD) and leukaemias. The coinheritance of this syndrome with beta-thalassemia major is uncommon. Only two cases of coinheritance of Down syndrome with beta-thalassemia major have been published in literature.

Attention deficit hyperactivity disorder in adolescent school children.

The prevalence of Attention deficit hyperactivity disorder was estimated in 500 adolescents using Conners' parents and teachers rating scales. Thirty six (7.2%) adolescents had positive scores on both the scales.

Heparin cofactor II thrombin complex as a biomarker for mucopolysaccharidosis: Indian experience.

Background: Serum heparin cofactor II-thrombin complex (HCII-T) is an emerging biomarker for mucopolysaccharidosis disease (MPS I and MPS II).

Methods: Seventeen cases (6 MPS I and 11 MPS II) and sixty healthy controls were enrolled in study, conducted from September 2008 to December 2012. The mean ± SD age of MPS1 (n=6, 5 males) and MPS II was 7.

Rectal involvement in neutropenic enterocolitis.

Neutropenic enterocolitis is a common gastrointestinal complication in children undergoing chemotherapy for a variety of malignancies. It usually involves ileum and caecum, and involvement of rectum has rarely been reported. The authors report neutropenic enterocolitis in a child undergoing chemotherapy for acute lymphoblastic lymphoma which presented with ileus along with a mass like lesion in the rectum.