Congenital Upper Limb Deficiency with Oligodactyly: A Case Report.

Congenital upper limb deficiency care and management have undergone drastic changes over the past 50 years. Given the low incidence of this defect nationwide, this case report adds to the existing database to analyze the etiological investigations, descriptive epidemiology, and trend detection. We present a case of a 2-month-old male child with congenital upper limb deficiency and explore the possible etiologies and difficulties during early diagnosis of such rare disorders in a low and middle-income countrries and present implications at the primary health care level to improve the prognosis. Poor nutrition during pregnancy due to an unplanned pregnancy is a possible cause. The prognosis is unfavourable due to sociocultural barriers. To address these limitations, it is pertinent to address disability-adequate knowledge among communities, promote early diagnosis, and timely rehabilitation using a multidisciplinary approach. Further, we provide a framework to optimize care. Keywords: congenital limb deficiency; prevalence; upper limb defect.

Hereditary Vitamin-D Dependent Rickets Type II: A Case Report.

Hereditary vitamin D dependent rickets type II is a rare genetic disorder in children characterized by early onset of rickets and deranged biochemical parameters. Low serum calcium level, high alkaline phosphatase, high parathyroid hormone, and high values of 1,25-dihydroxy vitamin D are characteristic biochemical findings. We are reporting a rare case of Vitamin D Dependent Rickets and subsequent improvement after addition of cinacalcet. This is a case report of a 2.5-year-child with Hereditary Vitamin D Dependent Rickets type II receiving cinacalcet as adjunct to oral calcium and calcitriol. Oral cinacalcet (0.25mg/kg/day) was added to the regimen as an adjunct after treatment failure with high dose of oral calcium and calcitriol. A significant improvement in radiological findings and normal homeostasis of calcium, phosphate and parathyroid hormone was achieved after initiation of cinacalcet.

Thanatophoric Skeletal Dysplasia: A Case Report.

Thanatophoric skeletal dysplasiais the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We encountered a similar case with ultrasonographic findings suggestive of Thanatophoric Skeletal Dysplasia which resulted in the death of the baby within an hour of birth. Almost all cases of this condition have been reported to have died interuterinally or a few days after birth.