Prenatal diagnosis of restrictive dermopathy.

We report three cases of Restrictive dermopathy from unrelated families. All were small for gestational age with small eyes and open mouth. Taut, stretched skin caused restriction of movements.

Triple X syndrome with rare phenotypic presentation.

Triple X syndrome is a rare numerical chromosomal anomaly, occurring as a result of non dysjunction in meiosis I. Most cases have neurodevelopmental defects and functional problems. We report two cases diagnosed in our centre.

Second trimester diagnosis of Neu Laxova syndrome.

This is the first report of a prenatally diagnosed case of Neu Laxova syndrome (NLS) from India. This also includes a case of NLS in monochorionic diamniotic twins and two more cases in which we were able to detect most of the features of NLS as early as 19 to 20 weeks by routine antenatal ultrasonography. Severe intrauterine growth retardation (IUGR), microcephaly, central nervous system (CNS) abnormality, joint contractures, and abnormal facies are the major diagnostic features observed in prenatal ultrasonography.