Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p57 | (1) | ICCBH2019

Effective therapy with growth hormone of an adolescent patient with growth hormone deficiency and osteopetrosis: A case report

Vlachopapadopoulou Elpis Athina , Dikaiakou Eirini , Samelis Panagiotis , Michalacos Stefanos

Background: Osteopetrosis (OP) is a bone disease which is characterized by increased bone density. Autosomal dominant osteopetrosis type II (ADO II, also called Albers-Schönberg disease) is the most common type and it is caused by heterozygous mutations in the chloride channel 7 (CLCN7) gene.Presenting problem: To present a patient with known medical and family history of osteopetrosis, who was diagnosed with Growth Hormone (GH) deficiency and was t...

ba0006p024 | (1) | ICCBH2017

Spondyloepiphyseal dysplasia: A rare cause of short stature

Vlachopapadopoulou Elpis , Dikaiakou Eirini , Panagiotopoulos Ioannis , Zambakides Christos , Anagnostou Elli , Papadakis Vassilios , Michalacos Stefanos

Background: Short stature is a very common reason for referral to a pediatric endocrinologist. Endocrine and non endocrine causes are involved. Short stature can be classified as symmetrical or non-symmetrical. Numerous monogenic causes of growth disorders have been identified.Presenting problem: To present two brothers with familial spondyloepiphyseal dysplasia presenting with short stature and very low growth velocity starting at the age of 8 years. Th...

ba0007p59 | (1) | ICCBH2019

Effective treatment of a patient with Hypophosphatemic Rickets leading to normal adult height

Vlachopapadopoulou Elpis-Athina , Athanasouli Fani , Dikaiakou Eirini , Samelis Panagiotis , Michalacos Stefanos

Background: Hypophosphatemic Rickets is an inherited disorder characterized by defect in bone mineralization, mainly in long bones due to hypophosphatemia. The most common form is the X-linked form but other forms such as autosomal dominant hypophosphatemic rickets and tumor-induces osteomalacia are also described. Symptoms usually begin in infancy or early childhood and there is a large spectrum of abnormalities. The most severe form causes bowing of legs, bone deformities, b...

ba0006p043 | (1) | ICCBH2017

Pseudohypoparathyroidism type IB: A cause of late hypocalcemia

Vlachopapadopoulou Elpis , Dikaiakou Eirini , Anagnostou Elli , Mackay Deborha , Tsolia Mariza , Michalacos Stefanos , Hanna Patrick , Linglart Agnes , Karavanaki Kyriaki

Background: Hypocalcemia presenting in adolescence is rare. Most common etiology is autoimmune hypoparathyroidism. Pseudohypoparathyroidism (PHP) is a rare group of disorders characterized by end-organ resistance to parathyroid hormone (PTH), and other hormones, such as TSH, with or without features of AlbrightÂ’s hereditary osteodystrophy.Case presentation: A 14-year-old boy presented complaining of fatigue and spontaneous carpal spasms in associati...