| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.8%) |
16086393 |
Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome? Verloes A, Garel C, Robertson S, Le Merrer M, Baumann C. Am J Med Genet A. 2005;137(2):199-203. |
| Progressive microcephaly Micromelia | ||
| FLNA | ||
| Bone and Bones Child, Preschool Craniosynostosis Fatal Outcome Homo sapiens Infant Intellectual Disability Male Periosteum Sibling | ||
| 2 (59.2%) |
29485259 |
Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review. Puvabanditsin S, February M, Stefano VD, Vinod S, Minerowicz C, Hussein K, Mayne J, Mehta R. Genet Couns. 2016;27(2):149-57. |
| Short philtrum Brachydactyly | ||
| Bone Diseases, Developmental Craniofacial Abnormalities Fetal Growth Retardation Homo sapiens Immunologic Deficiency Syndromes Infant, Newborn Spleen Syndrome | ||
| 3 (58.6%) |
16770805 |
Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology. Elliott AM, Wilcox WR, Spear GS, Field FM, Steffensen TS, Friedman BD, Rimoin DL, Lachman RS. Am J Med Genet A. 2006;140(14):1553-63. |
| Short philtrum Cloverleaf skull Overtubulated long bones | ||
| Adult Bone Density Bone Diseases, Developmental Females Hallermann's Syndrome Homo sapiens Infant, Newborn Male Phenotype Pregnancy Spleen Syndrome | ||
| 4 (53.1%) |
7837254 |
Osteocraniostenosis. Verloes A, Narcy F, Grattagliano B, Delezoide AL, Guibaud P, Schaaps JP, Le Merrer M, Maroteaux P. J Med Genet. 1994;31(10):772-8. |
| Brachydactyly Cloverleaf skull | ||
| Adult Face Females Homo sapiens Infant, Newborn Male Pregnancy | ||
| 5 (52.4%) |
9511974 |
Skeletal dysplasias with gracile bones: three new cases, including two offspring of a mother with a dwarfing condition. Costa T, Azouz EM, Fitzpatrick J, Kamel-Reid S, Smith CR, Silver MM. Am J Med Genet. 1998;76(2):125-32. |
| Microcephaly Abnormality of the hand | ||
| Adult Alleles Bone Diseases, Developmental Craniofacial Abnormalities DNA Dwarfism Females Fetal Death Gestational Age Homeodomain Proteins Homo sapiens Male Mosaicism Oncogene Proteins Pregnancy Pregnancy Trimester, Third Proto-Oncogene Proteins | ||
| 6 (21.2%) |
17351358 |
Osteocraniostenosis: a further case report documenting the antenatal findings. Smith A, Mehta S, Bullen P, Clayton-Smith J. Clin Dysmorphol. 2007;16(2):117-20. |
| Lethal skeletal dysplasia | ||
| Bone Diseases, Developmental Fatal Outcome Females Fetal Diseases Homo sapiens Infant, Newborn Pregnancy Ultrasonography, Prenatal | ||
| 6 (21.2%) |
11822707 |
Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype. Brennan P, Hall C. Clin Dysmorphol. 2002;11(1):57-61. |
| Skeletal dysplasia | ||
| Craniofacial Abnormalities Disorders of Sex Development Females Fetal Death Fetus Homo sapiens Infant, Newborn Male Pregnancy | ||
| 6 (21.2%) |
9450865 |
Gracile bone dysplasia. Thomas JA, Rimoin DL, Lachman RS, Wilcox WR. Am J Med Genet. 1998;75(1):95-100. |
| Hypokinesia Lethal skeletal dysplasia | ||
| Bone Diseases, Developmental Chondrocyte Craniofacial Abnormalities Electron Microscopy Females Fetal Death Homo sapiens Male Pregnancy | ||
| 9 (4.0%) |
15255041 |
Splenopancreatic field abnormality is not unique to trisomy 13. Peres LC, Barbosa GH, Careta RS, Nassif CM, de Pina-Neto JM, Giuliani LR, Martinhago CD, Gomy I. Pediatr Dev Pathol. 2004;7(1):91-4. |
| Oligohydramnios | ||
| Chromosomes, Human, Pair 13 Down Syndrome Females Fetal Death Homo sapiens Infant, Newborn Male Pancreas Spleen Trisomy | ||
| 9 (4.0%) |
12687665 |
Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation. Korniszewski L, Arbuckle S, Kozlowski K. Am J Med Genet A. 2003;118A(4):343-9. |
| Intrauterine growth retardation | ||
| Dwarfism Fatal Outcome Females Fetal Growth Retardation Homo sapiens Hypokinesia Infant, Newborn Osteochondrodysplasias |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001562 | Oligohydramnios | 2 |
| HP:0005716 | Lethal skeletal dysplasia | 2 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0002983 | Micromelia | 1 |