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hrp0098p3-152 | Growth and Syndromes | ESPE2024

Unusual case of Noonan or Turner Syndrome – Why not think about Escobar Syndrome?

Navarro da Cunha Beatriz , Hoelz Tellini Toledo Arthur , de Polli Celin Laurana , Rosa Pelliciari Caroline , Santili Cláudio , A. L. Jorge Alexander , C. Malaquias Alexsandra

Background: Escobar Syndrome (ES; OMIM #265000) is a rare condition falling under the spectrum of Multiple Pterygium Syndromes (MPS). MPS encompasses a group of congenital anomaly disorders characterized by features such as neck, elbows, and knee webbing alongside joint contractures (arthrogryposis). ES, specifically, represents a non-lethal variant stemming from homozygous or compound heterozygous mutations in the CHRNG gene. Noteworthy characteristics includ...

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hrp0098p2-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – can the calcium-sensing receptor have a role in expansive bone lesions?

Hoelz Tellini Toledo Arthur , Diesendruck Benjamin , Ayumi Peixoto Aoto Barbara , Akkari Miguel , Santili Cláudio , de Oliveira Goiano Ellen , Ferreira Rodart Itatiana , Rosa Bispo Thayna , A. Longui Carlos , C. Malaquias Alexsandra

Background: The calcium-sensing receptor (CaSR) regulates calcium metabolism by modulating PTH secretion, as well as by direct effect on osteoblasts and osteoclasts, balancing bone formation and resorption. Loss-of-function heterozygous mutations on CASR gene can lead to Familial Hypocalciuric Hypercalcemia (FHH; OMIM #145980), a benign autosomal dominant condition of undefined incidence. Dysplasia Epiphysealis Hemimelica (DEH; OMIM #127800) is a rare...

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ESPE Abstracts

Unusual case of Noonan or Turner Syndrome – Why not think about Escobar Syndrome?

Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – can the calcium-sensing receptor have a role in expansive bone lesions?

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