Differential diagnosis of Stickler syndrome

Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.

American journal of medical genetics. Part A·2004

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.

Clinical genetics·2002

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

American journal of medical genetics·1998

Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II.

Pediatric radiology·1998

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

American journal of medical genetics·1998

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

American journal of medical genetics·1998

Arthroscopic Double-Bundle Posterior Cruciate Ligament (PCL) Reconstruction: characterization of imaging findings and temporal changes on postoperative MRI.

Skeletal radiology·2026

De novo osteosarcoma following prolonged denosumab treatment for giant cell tumor of bone at an anatomically distant site: a case report.

Skeletal radiology·2026

Imaging features of soft tissue hibernoma: a review of 73 cases.

Skeletal radiology·2026

Dual-energy CT-generated bone marrow edema maps improve reader confidence without changing fracture detection rates in bony pelvis trauma.

Skeletal radiology·2026

Association of ligamentum teres thickness on MRI with femoral head extrusion in Legg-Calvé-Perthes disease.

Skeletal radiology·2026

Superb microvascular imaging enhances detection of microvascularity in plantar fasciosis: a clinical correlation study.

Skeletal radiology·2026

Open Excision of Snapping Scapula.

Video journal of sports medicine·2026

Comparison of the efficacy of various files and irrigations on calcium hydroxide removal: An in vitro study.

Dental research journal·2026

SolvateIt: A Tool for Solvating Molecules. A Case Study of Phloroglucinol in Solution.

Journal of computational chemistry·2026

Enhancing Science Communication through Deliberative Discussions on Water Contamination in a General Chemistry Lab at an HBCU.

Journal of chemical education·2026

Solubility Behavior of Salicylic Acid in Aqueous Alcohol Mixtures: Interplay of Temperature, Solvent Composition, and Thermodynamic Modeling.

ACS omega·2026

Comparative assessment of potato starch dissolution and functionalization in conventional and water-modified deep eutectic solvents.

RSC advances·2026

Related Experiment Videos

Differential diagnosis of Stickler syndrome

Related Concept Videos

Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II.

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

Arthroscopic Double-Bundle Posterior Cruciate Ligament (PCL) Reconstruction: characterization of imaging findings and temporal changes on postoperative MRI.

De novo osteosarcoma following prolonged denosumab treatment for giant cell tumor of bone at an anatomically distant site: a case report.

Imaging features of soft tissue hibernoma: a review of 73 cases.

Dual-energy CT-generated bone marrow edema maps improve reader confidence without changing fracture detection rates in bony pelvis trauma.

Association of ligamentum teres thickness on MRI with femoral head extrusion in Legg-Calvé-Perthes disease.

Superb microvascular imaging enhances detection of microvascularity in plantar fasciosis: a clinical correlation study.

Open Excision of Snapping Scapula.

Comparison of the efficacy of various files and irrigations on calcium hydroxide removal: An in vitro study.

SolvateIt: A Tool for Solvating Molecules. A Case Study of Phloroglucinol in Solution.

Enhancing Science Communication through Deliberative Discussions on Water Contamination in a General Chemistry Lab at an HBCU.

Solubility Behavior of Salicylic Acid in Aqueous Alcohol Mixtures: Interplay of Temperature, Solvent Composition, and Thermodynamic Modeling.

Comparative assessment of potato starch dissolution and functionalization in conventional and water-modified deep eutectic solvents.

Related Experiment Videos

Differential diagnosis of Stickler syndrome

Related Concept Videos

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