| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
10406666 |
A 100-year-old anatomical specimen presenting with boomerang-like skeletal dysplasia: diagnostic strategies and outcome. Oostra RJ, Dijkstra PF, Baljet B, Verbeeten BW, Hennekam RC. Am J Med Genet. 1999;85(2):134-9. |
| Brachycephaly Micrognathia | ||
| Bone and Bones Craniofacial Abnormalities Differential Diagnosis Females History, 19th Century Homo sapiens Magnetic Resonance Imaging X-Ray Computed Tomography | ||
| 2 (45.7%) |
12955767 |
Prenatal diagnosis of boomerang dysplasia. Wessels MW, Den Hollander NS, De Krijger RR, Bonife L, Superti-Furga A, Nikkels PG, Willems PJ. Am J Med Genet A. 2003;122A(2):148-54. |
| Micromelia | ||
| rs121908896 | ||
| Bone Diseases, Developmental Females Fetal Death Genes, Lethal Gestational Age Homo sapiens Pregnancy Ultrasonography, Prenatal | ||
| 2 (45.7%) |
1466560 |
Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"? Canki-Klain N, Stanescu V, Stanescu R, Sinkovec J, Debevec M, Maroteaux P. Ann Genet. 1992;35(3):129-33. |
| Hypertelorism Micromelia | ||
| Abnormality, Severe Teratoid Homo sapiens Infant, Newborn Male Thanatophoric Dysplasia | ||
| 4 (31.0%) |
29797497 |
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. Rehder H, Laccone F, Kircher SG, Schild RL, Rapp C, Bald R, Schulze B, Behunova J, Neesen J, Schoner K. Am J Med Genet A. 2018;176(7):1559-1568. |
| Oligodactyly | ||
| Adult Dwarfism Exhibits as Topic Facies Females Fetal Diseases Filamins Homo sapiens Male Middle Aged Mutation Osteochondrodysplasias | ||
| 5 (23.3%) |
22354125 |
A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging. Tsutsumi S, Maekawa A, Obata M, Morgan T, Robertson SP, Kurachi H. Fetal Diagn Ther. 2012;32(3):216-20. |
| Skeletal dysplasia Thoracic hypoplasia | ||
| Adult Amino Acid Substitution Contractile Proteins Dwarfism Facies Fatal Outcome Females Filamins Homo sapiens Imaging, Three-Dimensional Infant, Newborn Male Microfilament Proteins Mutation Osteochondrodysplasias Pregnancy Pregnancy Trimester, Third Protein Isoforms Respiratory Insufficiency Term Birth Ultrasonography, Prenatal X-Ray Computed Tomography | ||
| 6 (21.2%) |
1863996 |
Atelosteogenesis I and boomerang dysplasia: a question of nosology. Hunter AG, Carpenter BF. Clin Genet. 1991;39(6):471-80. |
| Skeletal dysplasia | ||
| SERPINC1 | ||
| Bone and Bones Homo sapiens Infant, Newborn Male Thanatophoric Dysplasia | ||
| 7 (4.0%) |
9779808 |
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. Bejjani BA, Oberg KC, Wilkins I, Moise A, Langston C, Superti-Furga A, Lupski JR. Am J Med Genet. 1998;79(5):392-5. |
| Pulmonary hypoplasia | ||
| Bone and Bones Females Gestational Age Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Pregnancy Ultrasonography | ||
| 7 (4.0%) |
9409862 |
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. Nishimura G, Horiuchi T, Kim OH, Sasamoto Y. Am J Med Genet. 1997;73(2):132-8. |
| Confusion | ||
| Bone and Bones Differential Diagnosis Homo sapiens Infant, Newborn Male Osteochondrodysplasias Phenotype Syndrome |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000824 | Growth hormone deficiency | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0002992 | Abnormality of tibia morphology | Very frequent (99-80%) |
| HP:0006492 | Aplasia/Hypoplasia of the fibula | Very frequent (99-80%) |
| HP:0008890 | Severe short-limb dwarfism | Very frequent (99-80%) |
| HP:0011849 | Abnormal bone ossification | Very frequent (99-80%) |
| HP:0100569 | Abnormally ossified vertebrae | Very frequent (99-80%) |
| HP:0100856 | Poorly ossified vertebrae | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0001539 | Omphalocele | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0001789 | Hydrops fetalis | Frequent (79-30%) |
| HP:0002818 | Abnormality of the radius | Frequent (79-30%) |
| HP:0002823 | Abnormality of femur morphology | Frequent (79-30%) |
| HP:0003063 | Abnormality of the humerus | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | Frequent (79-30%) |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | Frequent (79-30%) |
| HP:0002997 | Abnormality of the ulna | Occasional (29-5%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 1 |