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

Physeal stress injury in youth athletes: upper extremity imaging findings.

Skeletal radiology·2026

Decoding imaging in ankle impingement: a comprehensive review.

Skeletal radiology·2026

High-resolution visualization of cervical spine anatomy using 3D DESS at 7-T MRI: a cohort study in asymptomatic volunteers.

Skeletal radiology·2026

Greater occipital nerve iatrogenic neuroma after cervical arthrodesis: high-frequency ultrasound findings and ultrasound-guided management.

Skeletal radiology·2026

Osteoarthritis and fibroblast activation: an imaging study assessing feasibility and reliability of whole-body 68 Ga-FAPI PET-CT for structural osteoarthritis evaluation.

Skeletal radiology·2026

Imaging findings of injuries associated with badminton.

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.

Physeal stress injury in youth athletes: upper extremity imaging findings.

Decoding imaging in ankle impingement: a comprehensive review.

High-resolution visualization of cervical spine anatomy using 3D DESS at 7-T MRI: a cohort study in asymptomatic volunteers.

Greater occipital nerve iatrogenic neuroma after cervical arthrodesis: high-frequency ultrasound findings and ultrasound-guided management.

Osteoarthritis and fibroblast activation: an imaging study assessing feasibility and reliability of whole-body 68 Ga-FAPI PET-CT for structural osteoarthritis evaluation.

Imaging findings of injuries associated with badminton.

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

Related Articles