We have observed congenital hypophosphataemic rickets in two sons of a marriage between first cousins, their mother being clinically and biochemically normal. Both patients are now approaching middle age. In addition to severe childhood rickets and lifelong hypophosphataemia, their disease is characterised by gross osteosclerosis with extraskeletal ossification, clinically persistent osteomalac...

In this paper, two cases with mucolipidosis type II (I-cell disease) (proven in one presenting newborn and presumed in an elder deceased brother) are presented. These infants showed severe skeletal changes with diffuse periosteal new bone formation in long bones and ribs, marked osteopenia, and resorption of scapula, clavicula, and mandible. There was also irregular demineralization of metaphys...

At Ataturk University Hospital, eight infants who presented with hypocalcaemic seizures were subsequently found to have rickets. Their mothers had osteomalacia. Neither mothers nor infants received vitamin D supplementation. Maternal vitamin D deficiency and non-supplementation in the infants were causes of rickets in these patients. It is recommended that neonatal hypocalcaemia may be due to m...

Two separate episodes of rickets developed in a female infant of 25 weeks gestation and birthweight 690 g, who had congenital hypothyroidism and required parenteral nutrition for more than 100 days. We speculate that there is a relationship between metabolic bone disease of prematurity and the preterm infant's thyroid status.

Abstract Purpose Non-ossifying fibromas (NOF) are benign, fibrous lesions of the skeleton estimated to occur in about 30% children and adolescents. In general pediatric population, they twice as common males, usually asymptomatic self-limiting. Etiology is largely unknown, though multiple NOF described with genetic syndromes such neurofibromatosis 1. We have observed various forms rickets. Howe...