Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Skeletal Radiology
Published in: Skeletal Radiology 9/2018

01-09-2018 | Test Yourself: Answer

Short stature and bone structure abnormalities in an 8-year-old girl

Authors: Grammatina Boitsios, Jean-Christophe Le Brun, Paolo Simoni

Published in: Skeletal Radiology | Issue 9/2018

Login to get access

Excerpt

Diagnosis: Pycnodysostosis (also known as osteopetrosis acro-osteolytica) …
Literature
1.
Genin G. Anomalies osseuses constitutionnelles. Montpelier: Sauramps Médical; 2008.
2.
Huang X, Qi X, Li M, Wang O, Jiang Y, Xing X, et al. A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Chinese origin. Calcif Tissue Int. 2015;96:373–8.CrossRefPubMed
3.
Andren L, Dymling JF, Hogeman KE, Wendeberg B. Osteopetrosis acro-osteolytica. A syndrome of osteopetrosis, acro-osteolysis and open sutures of the skull. Acta Chir Scand. 1962;124:496–507.PubMed
4.
Boulet C, Madani H, Lenchik L, Vanhoenacker F, Amalnath DS, de Mey J, et al. Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders. Br J Radiol. 2016;89:20150349.CrossRefPubMedPubMedCentral
5.
Maroteaux P, Lamy M. Pyknodysostosis. Presse Med. 1962;70:999–1002.PubMed
6.
Maroteaux P, Le Merrer M. Maladies osseuses de l’enfant. 4ème. Paris: Flammarion Médecine-Sciences; 2002.
7.
8.
Alves N, Cantín M. Clinical and radiographic maxillofacial features of pycnodysostosis. Int J Clin Exp Med. 2014;7:492–6.PubMedPubMedCentral
9.
Bertola D, Amaral C, Kim C, Albano L, Aguena M, Passos-Bueno MR. Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. Am J Med Genet A. 2010;152A:2599–603.CrossRefPubMed
10.
Metadata
Title
Short stature and bone structure abnormalities in an 8-year-old girl
Authors
Grammatina Boitsios
Jean-Christophe Le Brun
Paolo Simoni
Publication date
01-09-2018
Publisher
Springer Berlin Heidelberg
Published in
Skeletal Radiology / Issue 9/2018
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI
https://doi.org/10.1007/s00256-018-2949-x

Other articles of this Issue 9/2018

Skeletal Radiology 9/2018 Go to the issue

Scientific Article

Normal imaging laterality on magnetic resonance imaging of the medial epicondyle of the elbow on the dominant side of adolescent male baseball players

Abstracts

Annual Scientific Meeting Abstracts of the International Skeletal Society (ISS) 2018, Berlin, Germany

Browser's Notes

Browser’s Notes

Case Report

Lymphangiomatosis: a rare entity presenting with involvement of the sacral plexus

Test Yourself: Question

Short stature and bone structure abnormalities in two siblings

Scientific Article

Clinical, radiological, and pathological features of extraskeletal osteosarcoma