Ramesh Choudhary

Abstract

Bohring–Opitz syndrome also known as Opitz C syndrome or Oberklaid–Danks syndrome is a rare syndrome. We are reporting a 2 months old male child with Bohring-Opitz like syndrome with all classical features and eventration of diaphragm   (left side) which has not  been reported yet with this syndrome.  To our knowledge, a total of 23 cases with this syndrome have been reported in the medical literature to date and this is probably the first case report from India. Although there is overlap, a clinical distinction from the Bohring-Opitz syndrome and other syndromes seems possible, and thus a specific causal entity may be postulated. Keywords: Bohring-Opitz syndrome, Opitz C syndrome, Eventration of diaphragm, India

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Abstract

Pulmonary agenesis is an extremely rare congenital malformation with an estimated frequency of 1 in 10000-15000 autopsies and 34 per million live births. In 50% cases it is associated with other malformations i.e. cardiovascular, musculoskeletal, gastrointestinal and renal.We report a rare case of a male neonate with right pulmonary agenesis associated with VACTERL sequence (L5 hemi-vertebra, right absent kidney with left ectopic kidney and right radial agenesis). This association was never reported in published literature. Keywords: Congenital abnormalities  neonate agenesis VACTERL.

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