Searchable abstracts of presentations at key conferences on calcified tissues

ba0006lb20 | (1) | ICCBH2017

COL2A1 c.1609G>A (p.Gly537Ser) a pathogenic variant causing multiple skeletal abnormalities and severe short stature

Vlachopapadopoulou Elpis , Dikaiakou Irene , Manolakos Emmanouil , Panagiotopoulos Ioannis , Michalacos Stefanos

Background: Skeletal dysplasias include many pathological conditions that involve bone metabolism and health and most of them are associated with short stature. 211 genes are associated with bone dysplasia and short stature. Presenting problem: To present a boy with severe short stature and skeletal abnormalities. He was born at term AGA. Growth failure was noted from the age of 8 months. IGF-I levels were low and he was tested for growth hormone deficie...

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...

ba0006p096 | (1) | ICCBH2017

Chronic intermittent torticollis in a toddler: a rare case of axis (C2) Ewing sarcoma presentation

Papadakis Vassilios , Vlachopapadopoulou Elpis , Antoniadi Kondylia , Tzotzola Vassiliki , Nikas John , Stefanaki Kalliopi , Sfakianos George , Polychronopoulou Sophia

Background: Torticollis in toddlers is most frequently a manifestation of traumatic atlantoaxial rotatory displacement or oropharyngeal inflammation, and rarely due to retropharyngeal abscesses and pyogenic cervical spondylitis. Rarely, intermittent torticollis may be caused by posterior fossa tumors. A very rare case of chronic intermittent torticollis due to upper spine Ewing sarcoma is presented.Presenting problem: A 2.2 year-old girl suffered four ep...

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...

ba0007p128 | (1) | ICCBH2019

Growth hormone effect on bone mineral density in a girl with osteogenesis imperfecta – a case presentation

Leka Sofia , Athanasouli Fani , Vlachopapadopoulou Elpis , Doulgeraki Artemis , Petrou Vassilios , Fotinou Aspasia , Michalacos Stefanos

Background: Osteogenesis imperfecta (OI) is characterized by bone fragility, resulting in low-energy fractures. Other features are compromised growth, blue sclerae, dental, cardiac and hearing abnormalities.Presenting problem: A girl with OI, hypothyroidism and growth hormone (GH) deficiency is presented. She was born at 32 weeks [birth weight: 1890 gr, length: 44 cm]. Her mother had OI and thyroid nodules. Both were found with heterozygous mutation in t...

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...

ba0006oc2 | (1) | ICCBH2017

Methylation patterns at the novel DMR of GNAS (GNAS-AS2) in pseudohypoparathyroidism 1B (PHP1B or iPPSD3) subtypes

Hanna Patrick , Rochtus Anne , Jueppner Harald , Mackay Deborah , Francou Bruno , Bouligand Jerome , Mantel Anne , Anagnostou Elli , Vlachopapadopoulou Elpis , Gaillard Dominique , Delemer Brigitte , Linglart Agnes

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...