Clinical suspicion is vital for early detection of PWS. Confirmation of the diagnosis requires complex multi-tier molecular genetic testing.

No abstract

No abstract

One in two thousand neonates suffer from congenital limb deficiencies. Fibular hemimelia, a birth defect, has an estimated incidence of 5.7 to 20 cases per 1 million births. Fibular Aplasia, Tibial Campomelia and Oligo-Syndactyly (FATCO) syndrome is one such which is a triad of fibular hemimelia (aplasia/hypoplasia of fibula), tibial campomelia (bending of tibial bone) and oligo syndactyly. It is a syndrome of unknown genetic basis and inheritance. Very few cases on this condition have been reported so far. This article reports two cases on this condition, wherein the babies had considerable variability of limb malformations. The first is a newborn with FATCO, and the second is a two-month-old male infant with FATCO associated with right focal femoral deficiency. In view of paucity of the cases, there is a need to report every case which may help in creating awareness and a standardised management approach.

No abstract