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hrp0086p1-p109 | Bone & Mineral Metabolism P1 | ESPE2016

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

Abali Saygin , Arman Ahmet , Atay Zeynep , Bas Serpil , Cam Sevda , Gormez Zeliha , Demirci Huseyin , Alanay Yasemin , Akarsu Nurten , Bereket Abdullah , Turan Serap

Background: Osteogenesis imperfecta type XVII (OI17) (MIM#182120) have been described recently due to mutation in secreted protein, acidic, cysteine-rich (SPARC) gene located on 5q33.1.Objective and hypotheses: Here we report a novel mutation in SPARC causing OI17.Case: Two siblings presented to our clinic at the age of 10.3 and 0.5 years old. Parents were consanguineous. The older one was born with birth weight &...

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hrp0086p1-p826 | Syndromes: Mechanisms and Management P1 | ESPE2016

Etiologic Distribution and Characteristics of Patients with Short Stature in a Pediatric Endocrinology Clinic

Ozcan Sibel , Abali Saygin , Atay Zeynep , Haliloglu Belma , Bas Serpil , Ozturk Gamze , Cam Sevda , Akcay Teoman , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Short stature (SS) is one of the most frequent reasons for referral to pediatric endocrinology clinics.Objective and hypotheses: We aimed to analyse the etiological factors of SS, in patients of our clinic, who are referred from general paediatrics with high likelihood of endocrinological problems after primary screening.Method: 1519 patients (693F) with height <3% were included. Clinical, anthropometric, radiologic...

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ESPE Abstracts

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

Etiologic Distribution and Characteristics of Patients with Short Stature in a Pediatric Endocrinology Clinic

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