Bone, Growth Plate and Mineral Metabolism

Patient with ABCD syndrome (Abnormal Calcium, Calcinosis, Creatinine in Down syndrome), a rare cause of pediatric hypercalcemia

hrp0097p2-53 | Bone, Growth Plate and Mineral Metabolism

Case report of an 18-month child with profound osteopenia, hypotonia, respiratory distress and RSV bronchiolitis, on a background of vitamin D dependent rickets type 1 (VDDRI): Acute management and 6 months follow-up.

hrp0097p2-54 | Bone, Growth Plate and Mineral Metabolism

Over four generations of adult-form HPP diagnosed from an asymptomatic child with low ALP levels

hrp0097p2-55 | Bone, Growth Plate and Mineral Metabolism

Three Years of Burosumab Treatment in a Child with Cutaneous Skeletal Hypophosphatemia Syndrome: A case report

hrp0097p2-56 | Bone, Growth Plate and Mineral Metabolism

Serum levels of carboxylated and undercarboxylated osteocalcin in non-obese children with Prader-Willi syndrome

hrp0097p2-116 | Bone, Growth Plate and Mineral Metabolism

Some of the clinical characteristics of osteogenesis imperfecta in children

hrp0097p2-117 | Bone, Growth Plate and Mineral Metabolism

Pediatric onset hypophosphatasia: a case report

hrp0097p2-118 | Bone, Growth Plate and Mineral Metabolism

Evaluation of the frequency of decreased bone mineral density and the impact of selected auxological and hormonal factors on bone mass among children with endocrine disorders

hrp0097p2-119 | Bone, Growth Plate and Mineral Metabolism

A rare case of hypocalcemia: was it better when it got worse?

hrp0097p2-120 | Bone, Growth Plate and Mineral Metabolism

Identification of 2 new heterozygous ACAN variants in a 3-years-old boy with short stature who presented with advanced bone age: a case report

hrp0097p2-121 | Bone, Growth Plate and Mineral Metabolism

Clinical findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

hrp0097p2-122 | Bone, Growth Plate and Mineral Metabolism

A Rare Case of Skeletal Dysplasia: Homozygous Mutation in ACAN Gene

hrp0097p2-123 | Bone, Growth Plate and Mineral Metabolism

Hypophosphatasia: a pediatric patient treated with asfotase alfa

hrp0097p2-124 | Bone, Growth Plate and Mineral Metabolism

Clinical case: a misleading family history

hrp0097p2-125 | Bone, Growth Plate and Mineral Metabolism

Unusual presentation of polyostotic fibrous dysplasia in two unrelated patients

hrp0097p2-170 | Bone, Growth Plate and Mineral Metabolism

Vitamin D deficiency in pediatric population and influence on PTH levels

hrp0097p2-171 | Bone, Growth Plate and Mineral Metabolism

An Infantile Hypophosphatasia with Novel Mutation in ALPL Gene: A Case Report

hrp0097p2-172 | Bone, Growth Plate and Mineral Metabolism

Hyperplastic Callus Formation in an Infant with Type I Osteogenesis Imperfecta: A Case Report

hrp0097p2-173 | Bone, Growth Plate and Mineral Metabolism

Caval calcium infusion is the best solution for patients with hereditary vitamin D resistant rickets (HVDRR)

hrp0097p2-174 | Bone, Growth Plate and Mineral Metabolism

HIgh variability of phenotypic expression of the same genotype in X linked hypophosphatemic rickets (XLH)

hrp0097p2-175 | Bone, Growth Plate and Mineral Metabolism

Kenny Caffey Syndrome; a Rare Diagnosis in Saudi Arabia.

hrp0097p2-176 | Bone, Growth Plate and Mineral Metabolism

A patient-centred and multi-stakeholder co-designed, mixed methods, observational, prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphatemia (XLH)

hrp0097p2-209 | Bone, Growth Plate and Mineral Metabolism

ESPE Abstracts

61st Annual ESPE (ESPE 2023)

Poster Category 2

Primary hyperparathyroidism in a pediatric patient with tuberous sclerosis

Patient with ABCD syndrome (Abnormal Calcium, Calcinosis, Creatinine in Down syndrome), a rare cause of pediatric hypercalcemia

Case report of an 18-month child with profound osteopenia, hypotonia, respiratory distress and RSV bronchiolitis, on a background of vitamin D dependent rickets type 1 (VDDRI): Acute management and 6 months follow-up.

Over four generations of adult-form HPP diagnosed from an asymptomatic child with low ALP levels

Three Years of Burosumab Treatment in a Child with Cutaneous Skeletal Hypophosphatemia Syndrome: A case report

Monogenic Diabetes (MODY) in Adolescents and Personalized Treatment.

Heterozygous mutations in SETD5 are associated with bone fragility

Kenny Caffey syndrome 2; expanding the clinical spectrum

Serum levels of carboxylated and undercarboxylated osteocalcin in non-obese children with Prader-Willi syndrome

Some of the clinical characteristics of osteogenesis imperfecta in children

Pediatric onset hypophosphatasia: a case report

Evaluation of the frequency of decreased bone mineral density and the impact of selected auxological and hormonal factors on bone mass among children with endocrine disorders

A rare case of hypocalcemia: was it better when it got worse?

Identification of 2 new heterozygous ACAN variants in a 3-years-old boy with short stature who presented with advanced bone age: a case report

Clinical findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

A Rare Case of Skeletal Dysplasia: Homozygous Mutation in ACAN Gene

Hypophosphatasia: a pediatric patient treated with asfotase alfa

Clinical case: a misleading family history

Unusual presentation of polyostotic fibrous dysplasia in two unrelated patients

Vitamin D deficiency in pediatric population and influence on PTH levels

An Infantile Hypophosphatasia with Novel Mutation in ALPL Gene: A Case Report

Hyperplastic Callus Formation in an Infant with Type I Osteogenesis Imperfecta: A Case Report

Caval calcium infusion is the best solution for patients with hereditary vitamin D resistant rickets (HVDRR)

HIgh variability of phenotypic expression of the same genotype in X linked hypophosphatemic rickets (XLH)

Kenny Caffey Syndrome; a Rare Diagnosis in Saudi Arabia.

A patient-centred and multi-stakeholder co-designed, mixed methods, observational, prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphatemia (XLH)

Diagnostic and Management Challenges in X linked hypophosphatemic rickets:-A case series

BiosciAbstracts