| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (42.2%) |
24267135 |
[Keutel syndrome with tracheal stenosis as the major symptom: case report and literature review]. Sun LF, Ju YF, Fu GJ, Wang JR, Feng YZ, Chen X. Zhonghua Er Ke Za Zhi. 2013;51(7):527-30. |
| Sinusitis Depressed nasal bridge | ||
| Bone and Bones Calcinosis Cartilage Cartilage Diseases Congenital Hand Deformities Differential Diagnosis Homo sapiens Infant Male Pulmonary Valve Stenosis Radiography, Thoracic Retrospective Studies Tracheal Stenosis X-Ray Computed Tomography | ||
| 2 (26.3%) |
26349188 |
CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE. Tuysuz B, Cinar B, Laciner S, Onay H, Mittaz-Crettol L. Genet Couns. 2015;26(2):187-94. |
| Peripheral pulmonary artery stenosis Midface retrusion | ||
| MGP | ||
| c|SUB|A|62-2|G;RS#:112518413 c|SUB|A|IVS1-2|G | ||
| Adult Calcinosis Calcium-Binding Proteins Cartilage Diseases Congenital Hand Deformities Extracellular Matrix Proteins Females Homo sapiens Homozygote Mutation Pulmonary Valve Stenosis Sibling Young Adult | ||
| 2 (26.3%) |
22611639 |
A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype. Demirel G, Oguz SS, Celik IH, Erdeve O, Uras N, Dilmen U. Genet Couns. 2012;23(1):25-30. |
| Respiratory insufficiency Short nose | ||
| Calcinosis Cartilage Diseases Chondrodysplasia Punctata Congenital Hand Deformities Differential Diagnosis Fatal Outcome Homo sapiens Infant, Newborn Maxilla Maxillofacial Abnormalities Nose Pulmonary Valve Stenosis | ||
| 4 (21.2%) |
6468443 |
Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome. Fryns JP, van Fleteren A, Mattelaer P, van den Berghe H. Eur J Pediatr. 1984;142(3):201-3. |
| Calcification of cartilage | ||
| Calcinosis Cartilage Diseases Females Fingers Homo sapiens Intellectual Disability Pulmonary Valve Stenosis Syndrome | ||
| 5 (20.4%) |
21435166 |
Circulating matrix gamma-carboxyglutamate protein (MGP) species are refractory to vitaminK treatment in a new case of Keutel syndrome. Cranenburg EC, VAN Spaendonck-Zwarts KY, Bonafe L, Mittaz Crettol L, Rodiger LA, Dikkers FG, VAN Essen AJ, Superti-Furga A, Alexandrakis E, Vermeer C, Schurgers LJ, Laverman GD. J Thromb Haemost. 2011;9(6):1225-35. |
| Arterial calcification | ||
| MGP | ||
| c|SUB|G|61+1|A;RS#:111798215 | ||
| Arteries Calcinosis Calcium-Binding Proteins Cartilage Diseases Congenital Hand Deformities Extracellular Matrix Proteins Homo sapiens Homozygote Mutation Pulmonary Valve Stenosis | ||
| 6 (4.0%) |
25123378 |
Long term follow-up of four patients with Keutel syndrome. Khosroshahi HE, Sahin SC, Akyuz Y, Ede H. Am J Med Genet A. 2014;164A(11):2849-56. |
| Infertility | ||
| MGP | ||
| Adult Biopsy Calcinosis Cartilage Diseases Congenital Hand Deformities Facies Females Follow-Up Studies Homo sapiens Lung Phenotype Pulmonary Valve Stenosis Sibling Skin Thyroid Gland X-Ray Computed Tomography Young Adult | ||
| 6 (4.0%) |
21090163 |
Keutel syndrome in a patient presenting with hearing loss. Acar GO, Yilmaz M, Sekercioglu N, Yuksel A. B-ENT. 2010;6(3):201-4. |
| Peripheral pulmonary artery stenosis | ||
| Adult Cartilage Diseases Females Homo sapiens Pulmonary Valve Stenosis Syndrome | ||
| 6 (4.0%) |
19156647 |
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature. Levaillant JM, Moeglin D, Zouiten K, Bucourt M, Burglen L, Soupre V, Baumann C, Jaquemont ML, Touraine R, Picard A, Vuillard E, Belarbi N, Oury JF, Verloes A, Vazquez MP, Labrune P, Delezoide AL, Gerard-Blanluet M. Prenat Diagn. 2009;29(2):140-50. |
| Vomiting | ||
| Chondrodysplasia Punctata Females Homo sapiens Infant, Newborn Male Maxillofacial Abnormalities Phenotype Pregnancy Retrospective Studies Ultrasonography, Prenatal | ||
| 6 (4.0%) |
18164396 |
Idiopathic isolated laryngotracheobronchial cartilage calcification in a child. Ceyhan M, Nural MS, Elmali M, Bayrak IK. Clin Imaging. 2008;32(1):51-3. |
| Cough | ||
| Bronchial Diseases Calcinosis Cartilage Diseases Homo sapiens Infant Male Tracheal Diseases | ||
| 6 (4.0%) |
8862629 |
Skeletal and cardiac malformations with thrombocytopenia: a new syndrome? Rupps R, Elliott AM, Azouz EM, Bernstein ML, Kaplan P, Eydoux P, Der Kaloustian VM. Am J Med Genet. 1996;64(3):497-500. |
| Thrombocytopenia | ||
| Atrial Septal Defects Child Developmental Disabilities Females Homo sapiens Syndrome Thrombocytopenia Ventricular Septal Defects |
Total: 24
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000276 | Long face | Very frequent (99-80%) |
| HP:0000445 | Wide nose | Very frequent (99-80%) |
| HP:0004415 | Pulmonary artery stenosis | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0009882 | Short distal phalanx of finger | Very frequent (99-80%) |
| HP:0011800 | Midface retrusion | Very frequent (99-80%) |
| HP:0100593 | Calcification of cartilage | Very frequent (99-80%) |
| HP:0100682 | Tracheal atresia | Very frequent (99-80%) |
| HP:0000340 | Sloping forehead | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000403 | Recurrent otitis media | Frequent (79-30%) |
| HP:0000430 | Underdeveloped nasal alae | Frequent (79-30%) |
| HP:0001256 | Intellectual disability, mild | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001629 | Ventricular septal defect | Frequent (79-30%) |
| HP:0002092 | Pulmonary arterial hypertension | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0011108 | Recurrent sinusitis | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0001027 | Soft, doughy skin | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001596 | Alopecia | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0004334 | Dermal atrophy | Occasional (29-5%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004969 | Peripheral pulmonary artery stenosis | 2 |
| HP:0000246 | Sinusitis | 1 |
| HP:0000403 | Recurrent otitis media | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0011800 | Midface retrusion | 1 |
| HP:0100545 | Arterial stenosis | 1 |