Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who (it has been surmised) suffered from the disease. In 1996, the defective gene responsible for Pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder. It is an autosomal recessive osteochondrodysplasia, usually diagnosed at an early age with incidence estimated to be 1.7 per 1 million births. Pycnodysostosis is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. The syndrome has been frequently reported in history. This article reports unusual ophthalmologic findings, conductive hearing loss due to suspected otosclerosis and sandal gap deformity in a Pycnodysostosis patient.

No abstract

Proximal femoral focal deficiency (PFFD) is a rare congenital anomaly. We present a case of an isolated unilateral congenital femoral deficiency that was born locally. A full-term male baby was brought to us with a complaint of short left lower limb. Examination revealed short left lower limb with absence of thigh. Detailed history was obtained and he was examined clinically as well as radiologically. He was diagnosed as a case of PFFD of type C. Proper evaluation and its management accordingly can help the patient to lead a socially and economically productive life.

Introduction: The most vulnerable period of human life is neonatal period, which accounts for most of the morbidities and mortalities. Most of them are preventable with adequate health-care facilities. Objectives: The aim of the study was to determine the trends of neonatal mortality and identify the risk factors, most of which are preventable and measure the progress of health-care services. Methods: A retrospective study was conducted in neonatal intensive care unit (NICU) of Al-Ameen Children Hospital (AMCH) Vijayapura, Karnataka, India. Data were extracted from paper medical records at AMCH of a period of 1 year and digitized. Data obtained included age, sex and birth weight, place of delivery, morbidity profile, mortality profile, diagnosis, and period of stay in NICU. Results: A total of 648 neonates were admitted in NICU during the study period of 1-year duration, between January and December 2021. A total of 382 (58.9%) infants were discharged on recovery, 65 (10.3%) were referred due to unavailability of advanced surgical intervention, 39 (6%) were discharged against medical advice, 162 (25%) died due to various reasons. Male neonatal deaths outnumbered female neonates (56.8%). Among the total neonatal deaths, 82 (50.6%) were preterm neonates, 73 (45.1%) were term neonates and 7 (4.3%) were post-term neonates. It was noticed that among neonatal deaths, 87 (54.3%) babies were out-born and 75 (46.2%) babies were inborn. In this study, it was noticed that the mortality percentage of the neonate falling in the category of 1.5–1.9 kg was high compared to other categories. In our study, respiratory distress syndrome was the main cause of mortality accounting for 19.1% (31 cases) of total cases and prematurity was the most common risk factor. Conclusion: Improving the standard of antenatal care and encouraging deliveries in institutions having good NICU facility and early identification of risk factors help to reduce the mortality and its complications.