| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.5%) |
9475591 |
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. Schaefer F, Anderson C, Can B, Say B. Am J Med Genet. 1998;75(3):252-5. |
| Cloverleaf skull Radioulnar synostosis | ||
| FGFR2 | ||
| c|SUB|G|290|T rs121918499 | ||
| Acrocephalosyndactylia Amino Acid Sequence Craniofacial Dysostosis Exons Females Fibroblast Growth Factor Receptor 2 Fibroblast Growth Factor Receptors Homo sapiens Infant, Newborn Molecular Sequence Data Mutation Receptor Protein-Tyrosine Kinases | ||
| 2 (56.8%) |
23348324 |
Anesthetic risks associated with Antley-Bixler syndrome. Gencay I, Vargel I, Buyukkocak U, Yazc I, Apan A. J Craniofac Surg. 2013;24(1):e21-3. |
| Brachycephaly Choanal stenosis Humeroradial synostosis | ||
| Antley-Bixler Syndrome Phenotype General Anesthesia Homo sapiens Male Maxilla Osteotomy, Le Fort Young Adult | ||
| 3 (54.4%) |
15666853 |
A male twin infant with skull deformity and elevated neonatal 17-hydroxyprogesterone: a prismatic case of P450 oxidoreductase deficiency. Wudy SA, Hartmann MF, Draper N, Stewart PM, Arlt W. Endocr Res. 2004;30(4):957-64. |
| Arachnodactyly Frontal bossing | ||
| CYP21A2 FGFR2 | ||
| p|SUB|A|284|P | ||
| Amino Acid Substitution Differential Diagnosis Diseases in Twins Females Homo sapiens Infant, Newborn Male Marfan Syndrome NADPH-Ferrihemoprotein Reductase Steroid Metabolism, Inborn Errors Steroids | ||
| 3 (54.4%) |
6829602 |
Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus. Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C. Am J Med Genet. 1983;14(1):139-47. |
| Brachycephaly Choanal stenosis Slender finger | ||
| Congenital Heart Defects Craniosynostosis Face Females Genes, Recessive Homo sapiens Infant, Newborn Kidney Pregnancy Syndrome Ultrasonography | ||
| 5 (53.2%) |
9664207 |
The Antley-Bixler syndrome. A new case without radiohumeral synostosis. Chabchoub A, Siala-Gaigi S, Marrakchi Z, Jebnoun S, Ayachi R, Khrouf N. Genet Couns. 1998;9(2):113-8. |
| Brachycephaly Arachnodactyly | ||
| Craniosynostosis Females Homo sapiens Syndrome | ||
| 6 (52.7%) |
8267929 |
Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome? Antich J, Iriondo M, Lizarraga I, Manzanares R, Cusi V. Genet Couns. 1993;4(3):207-11. |
| Prominent nose Tapered finger Femoral bowing | ||
| Anus, Imperforate Bone Diseases, Developmental Differential Diagnosis Face Femur Fingers Homo sapiens Infant, Newborn Male Syndrome | ||
| 7 (52.0%) |
9018420 |
Antley-Bixler syndrome: case report and review of the literature. Crisponi G, Porcu C, Piu ME. Clin Dysmorphol. 1997;6(1):61-8. |
| Choanal stenosis Tapered finger | ||
| Congenital Hand Deformities Contracture Craniosynostosis Females Homo sapiens Infant, Newborn Syndrome | ||
| 8 (51.7%) |
26670660 (4687943) |
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency. Oldani E, Garel C, Bucourt M, Carbillon L. Am J Case Rep. 2015;16:882-5. |
| Frontal bossing Femoral bowing | ||
| POR | ||
| Adult Antley-Bixler Syndrome Phenotype Cytochrome P450 DNA Mutational Analysis Differential Diagnosis Fatal Outcome Females Fetal Diseases Homo sapiens Imaging, Three-Dimensional Mutation Pregnancy Ultrasonography, Prenatal X-Ray Computed Tomography | ||
| 8 (51.7%) |
9768136 |
[Antley-Bixler syndrome. Description of two new cases and review of the literature. Prognostic and therapeutic aspects]. Bottero L, Cinalli G, Labrune P, Lajeunie E, Marchac D, Renier D. Ann Chir Plast Esthet. 1997;42(1):48-55. |
| Brachycephaly Pear-shaped nose Femoral bowing | ||
| Child, Preschool Craniosynostosis Females Homo sapiens Infant Male Syndrome X-Ray Computed Tomography | ||
| 8 (51.7%) |
9224917 |
Antley-Bixler syndrome. Description of two new cases and a review of the literature. Bottero L, Cinalli G, Labrune P, Lajeunie E, Renier D. Childs Nerv Syst. 1997;13(5):275-80; discussion 281. |
| Brachycephaly Pear-shaped nose Femoral bowing | ||
| Anus, Imperforate Chromosome Aberrations Craniofacial Abnormalities Craniosynostosis Females Genes, Recessive Homo sapiens Infant Infant, Newborn Male Syndrome |
Total: 30
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000248 | Brachycephaly | Very frequent (99-80%) |
| HP:0000270 | Delayed cranial suture closure | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000772 | Abnormality of the ribs | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0001166 | Arachnodactyly | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Very frequent (99-80%) |
| HP:0002980 | Femoral bowing | Very frequent (99-80%) |
| HP:0003070 | Elbow ankylosis | Very frequent (99-80%) |
| HP:0003196 | Short nose | Very frequent (99-80%) |
| HP:0003275 | Narrow pelvis bone | Very frequent (99-80%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0000453 | Choanal atresia | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0001363 | Craniosynostosis | Frequent (79-30%) |
| HP:0012210 | Abnormal renal morphology | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000262 | Turricephaly | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
| HP:0002757 | Recurrent fractures | Occasional (29-5%) |
| HP:0009891 | Underdeveloped supraorbital ridges | Occasional (29-5%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002980 | Femoral bowing | 5 |
| HP:0000062 | Ambiguous genitalia | 4 |
| HP:0002828 | Multiple joint contractures | 2 |
| HP:0000147 | Polycystic ovaries | 1 |
| HP:0000520 | Proptosis | 1 |
| HP:0001166 | Arachnodactyly | 1 |
| HP:0002023 | Anal atresia | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0002974 | Radioulnar synostosis | 1 |
| HP:0003084 | Fractures of the long bones | 1 |
| HP:0030772 | Proximal femoral focal deficiency | 1 |
| HP:0031846 | Femur fracture | 1 |