| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (60.1%) |
24928929 |
Neonatal Marfan syndrome: a successful early multidisciplinary approach. Amado M, Calado MA, Ferreira R, Lourenco T. BMJ Case Rep. 2014;2014:. |
| Micrognathia Arachnodactyly Frontal bossing | ||
| FBN1 | ||
| Females Fibrillins Homo sapiens Infant, Newborn Marfan Syndrome Microfilament Proteins Mitral Valve Insufficiency Mutation Patient Care Team Tricuspid Valve Insufficiency Ultrasonography | ||
| 2 (58.9%) |
15287423 |
Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene. Elcioglu NH, Akalin F, Elcioglu M, Comeglio P, Child AH. Genet Couns. 2004;15(2):219-25. |
| Microretrognathia Arachnodactyly | ||
| FBN1 | ||
| rs137854481 | ||
| Ectopia Lentis Fatal Outcome Fibrillins Homo sapiens Infant, Newborn Male Marfan Syndrome Microfilament Proteins Missense Mutation | ||
| 2 (58.9%) |
1856834 |
Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE. J Med Genet. 1991;28(4):267-73. |
| Micrognathia Arachnodactyly | ||
| Contracture Homo sapiens Infant, Newborn Male Marfan Syndrome Mitral Valve Insufficiency Mutation Physical Examination Tricuspid Valve Insufficiency | ||
| 4 (35.4%) |
27914124 (5143279) |
Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea. Heo JS, Song JY, Choi EY, Kim EH, Kim JH, Park SE, Jeon JH. J Korean Med Sci. 2017;32(1):1-3. |
| Hydroureter Arachnodactyly | ||
| FBN1 | ||
| c|SUB|G|3217|A;RS#:137854478 p|SUB|E|1073|K;RS#:137854478 p|SUB|K|1073|E;RS#:137854478 rs137854478 | ||
| Aorta Asians Brain Echocardiography Exons Homo sapiens Infant, Newborn Kidney Magnetic Resonance Imaging Male Marfan Syndrome Missense Mutation South Korea Ultrasonography | ||
| 4 (35.4%) |
14586646 |
Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature. Revencu N, Quenum G, Detaille T, Verellen G, De Paepe A, Verellen-Dumoulin C. Eur J Pediatr. 2004;163(1):33-7. |
| Hydronephrosis Arachnodactyly | ||
| FBN1 | ||
| g|SUB|T|3165|G rs397515786 | ||
| Diaphragmatic Eventration Fatal Outcome Fibrillins Homo sapiens Infant, Newborn Male Marfan Syndrome Microfilament Proteins Missense Mutation Urologic Diseases | ||
| 4 (35.4%) |
12413333 |
A recurring FBN1 gene mutation in neonatal Marfan syndrome. Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A. Arch Pediatr Adolesc Med. 2002;156(11):1081-5. |
| Arachnodactyly | ||
| FBN1 | ||
| g|SUB|T|3276|C | ||
| Females Fibrillins Genotype Homo sapiens Infant, Newborn Marfan Syndrome Microfilament Proteins Phenotype Point Mutation | ||
| 4 (35.4%) |
12085746 |
[Marfan syndrome in the newborn and infants less than 4 months: a series of 9 patients]. Abdel-Massih T, Goldenberg A, Vouhe P, Iserin F, Acar P, Villain E, Agnoletti G, Sidi D, Bonnet D. Arch Mal Coeur Vaiss. 2002;95(5):469-72. |
| Arachnodactyly | ||
| Aortic Diseases Congenital Heart Defects Fatal Outcome Females Homo sapiens Infant Infant, Newborn Male Marfan Syndrome Mitral Valve Insufficiency Pathological Dilatation | ||
| 4 (35.4%) |
10404462 |
Neonatal Marfan syndrome: a case report. Ng DK, Chau KW, Black C, Thomas TM, Mak KL, Boxer M. J Paediatr Child Health. 1999;35(3):321-3. |
| Slender finger | ||
| c|SUB|G|1032|A | ||
| Cardiomegaly Fatal Outcome Females Fibrillins Homo sapiens Infant, Newborn Marfan Syndrome Microfilament Proteins Point Mutation Ultrasonography, Prenatal | ||
| 4 (35.4%) |
4093773 |
[Fatal Marfan syndrome in the neonatal period]. Jalaguier J, Montoya F, Sarda P, Teot L, Bonnet H. J Genet Hum. 1985;33(5):435-44. |
| Arachnodactyly | ||
| Congenital Heart Defects Females Hemodynamics Homo sapiens Infant, Newborn Marfan Syndrome | ||
| 10 (23.3%) |
10797416 |
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. Belleh S, Zhou G, Wang M, Der Kaloustian VM, Pagon RA, Godfrey M. Am J Med Genet. 2000;92(1):7-12. |
| Flexion contracture Kyphoscoliosis | ||
| FBN1 FBN2 | ||
| p|SUB|C|1141|F;RS#:137852828 rs137852828 rs2307109 rs28931602 rs770803581 rs878854477 | ||
| Amino Acid Substitution Child Contracture DNA Mutational Analysis Females Fibrillins Heteroduplex Analysis Homo sapiens Male Marfan Syndrome Microfilament Proteins Mutation Point Mutation |
Total: 43
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000268 | Dolichocephaly | Very frequent (99-80%) |
| HP:0000485 | Megalocornea | Very frequent (99-80%) |
| HP:0000768 | Pectus carinatum | Very frequent (99-80%) |
| HP:0000973 | Cutis laxa | Very frequent (99-80%) |
| HP:0001083 | Ectopia lentis | Very frequent (99-80%) |
| HP:0001166 | Arachnodactyly | Very frequent (99-80%) |
| HP:0001181 | Adducted thumb | Very frequent (99-80%) |
| HP:0001270 | Motor delay | Very frequent (99-80%) |
| HP:0001371 | Flexion contracture | Very frequent (99-80%) |
| HP:0001518 | Small for gestational age | Very frequent (99-80%) |
| HP:0001634 | Mitral valve prolapse | Very frequent (99-80%) |
| HP:0001653 | Mitral regurgitation | Very frequent (99-80%) |
| HP:0001704 | Tricuspid valve prolapse | Very frequent (99-80%) |
| HP:0001713 | Abnormal cardiac ventricle morphology | Very frequent (99-80%) |
| HP:0002097 | Emphysema | Very frequent (99-80%) |
| HP:0002631 | obsolete Dilatation of ascending aorta | Very frequent (99-80%) |
| HP:0002643 | Neonatal respiratory distress | Very frequent (99-80%) |
| HP:0003116 | Abnormal echocardiogram | Very frequent (99-80%) |
| HP:0004970 | Ascending tubular aorta aneurysm | Very frequent (99-80%) |
| HP:0005180 | Tricuspid regurgitation | Very frequent (99-80%) |
| HP:0008124 | Talipes calcaneovarus | Very frequent (99-80%) |
| HP:0008734 | Decreased testicular size | Very frequent (99-80%) |
| HP:0010511 | Long toe | Very frequent (99-80%) |
| HP:0011003 | High myopia | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0012418 | Hypoxemia | Very frequent (99-80%) |
| HP:0030148 | Heart murmur | Very frequent (99-80%) |
| HP:0100578 | Lipoatrophy | Very frequent (99-80%) |
| HP:0100625 | Enlarged thorax | Very frequent (99-80%) |
| HP:0100693 | Iridodonesis | Very frequent (99-80%) |
| HP:0100807 | Long fingers | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000369 | Low-set ears | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000490 | Deeply set eye | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000592 | Blue sclerae | Frequent (79-30%) |
| HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
| HP:0001265 | Hyporeflexia | Frequent (79-30%) |
| HP:0001382 | Joint hypermobility | Frequent (79-30%) |
| HP:0002705 | High, narrow palate | Frequent (79-30%) |
| HP:0009901 | Crumpled ear | Frequent (79-30%) |
| HP:0012771 | Increased arm span | Frequent (79-30%) |
Total: 22
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001166 | Arachnodactyly | 5 |
| HP:0001635 | Congestive heart failure | 5 |
| HP:0001371 | Flexion contracture | 3 |
| HP:0002097 | Emphysema | 3 |
| HP:0002617 | Dilatation | 3 |
| HP:0009110 | Diaphragmatic eventration | 2 |
| HP:0009901 | Crumpled ear | 2 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000308 | Microretrognathia | 1 |
| HP:0001059 | Pterygium | 1 |
| HP:0001083 | Ectopia lentis | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0001582 | Redundant skin | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002566 | Intestinal malrotation | 1 |
| HP:0002786 | Tracheobronchomalacia | 1 |
| HP:0004756 | Ventricular tachycardia | 1 |
| HP:0004927 | Pulmonary artery dilatation | 1 |
| HP:0009756 | Popliteal pterygium | 1 |
| HP:0011724 | Uhl's anomaly | 1 |
| HP:0012727 | Thoracic aortic aneurysm | 1 |
| HP:0100790 | Hernia | 1 |