| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 10 (35.3%) |
21328078 |
Cardiopulmonary arrest caused by craniometaphyseal dysplasia. Chida A, Yanagawa Y, Matsumoto H, Nonoyama S. Indian J Pediatr. 2011;78(8):1010-2. |
| Choanal stenosis Facial palsy | ||
| Bone Diseases, Developmental Cardiac Arrest Craniofacial Abnormalities Females Homo sapiens Hyperostosis Infant | ||
| 10 (35.3%) |
19426903 |
Craniometaphyseal dysplasia: a case report. Lamazza L, Messina A, D'Ambrosio F, Spink M, De Biase A. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;107(5):e23-7. |
| Facial palsy | ||
| ANKH | ||
| Adult Craniofacial Abnormalities Genes, Dominant Hearing Loss, Bilateral Homo sapiens Inorganic Phosphate Transporter Male Osteosclerosis Prognathism | ||
| 10 (35.3%) |
16012045 |
Craniometaphyseal dysplasia. Kim YH, Roh DH, Choi BY, Oh SH. Acta Otolaryngol. 2005;125(7):797-800. |
| Facial paralysis | ||
| Bone Diseases, Developmental Child, Preschool Females Femur Homo sapiens Hyperostosis Magnetic Resonance Imaging X-Ray Computed Tomography | ||
| 14 (34.8%) |
3810462 |
Cervical spinal deformity in craniometaphyseal dysplasia. Yamada H, Yamanaka T, Tanaka Y, Nakamura S. Surg Neurol. 1987;27(3):284-90. |
| Kyphosis Genu valgum | ||
| C2 C3 C4A | ||
| Bone Diseases, Developmental Cervical Vertebrae Child Females Homo sapiens | ||
| 15 (32.7%) |
29299192 |
An atypical case of craniometaphyseal dysplasia. Case report and surgical treatment. Novelli G, Ardito E, Mazzoleni F, Bozzetti A, Sozzi D. Ann Stomatol (Roma). 2017;8(2):89-94. |
| Overgrowth Metaphyseal widening | ||
| 15 (32.7%) |
11343343 |
Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred. Braun HS, Nurnberg P, Tinschert S. Am J Med Genet. 2001;101(1):74-7. |
| Metaphyseal widening | ||
| Child Females Femur Genes, Dominant Germany Hereditary Multiple Exostoses Homo sapiens Male Osteochondrodysplasias | ||
| 15 (32.7%) |
8432058 |
Bone scan findings in craniometaphyseal dysplasia. Ramseyer LT, Leonard JC, Stacy TM. Clin Nucl Med. 1993;18(2):137-9. |
| Diaphyseal dysplasia | ||
| Bone Diseases, Developmental Child Homo sapiens Infant, Newborn Male Radionuclide Imaging | ||
| 15 (32.7%) |
6831758 |
Autosomal dominant craniometaphyseal dysplasia. Clinical variability. Carnevale A, Grether P, del Castillo V, Takenaga R, Orzechowski A. Clin Genet. 1983;23(1):17-22. |
| Metaphyseal widening | ||
| Adult Bone Diseases, Developmental Child Child, Preschool Females Genes, Dominant Homo sapiens Male Mexico | ||
| 15 (32.7%) |
3993302 |
[Familial craniometaphyseal dysplasia associated with mental retardation]. Portnov VA, Marincheva GS, Gorbachevskaia NL. Zh Nevropatol Psikhiatr Im S S Korsakova. 1985;85(3):404-9. |
| Metaphyseal dysplasia | ||
| Bone Diseases, Developmental Females Homo sapiens Intellectual Disability | ||
| 15 (32.7%) |
1956063 |
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? Reardon W, Hall CM, Dillon MJ, Baraitser M. J Med Genet. 1991;28(9):622-6. |
| Metaphyseal dysplasia | ||
| Bone and Bones Face Females Hearing Loss, Bilateral Homo sapiens Intellectual Disability Male Microcephaly Phenotype |
Total: 13
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0004493 | Craniofacial hyperostosis | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0011002 | Osteopetrosis | Very frequent (99-80%) |
| HP:0000506 | Telecanthus | Frequent (79-30%) |
| HP:0002652 | Skeletal dysplasia | Frequent (79-30%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0001291 | Abnormal cranial nerve morphology | Occasional (29-5%) |
| HP:0010628 | Facial palsy | Occasional (29-5%) |
Total: 17
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100774 | Hyperostosis | 6 |
| HP:0001548 | Overgrowth | 3 |
| HP:0007209 | Facial paralysis | 3 |
| HP:0000572 | Visual loss | 2 |
| HP:0001742 | Nasal obstruction | 2 |
| HP:0100255 | Metaphyseal dysplasia | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000278 | Retrognathia | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0001293 | Cranial nerve compression | 1 |
| HP:0002196 | Myelopathy | 1 |
| HP:0002748 | Rickets | 1 |
| HP:0003016 | Metaphyseal widening | 1 |
| HP:0003470 | Paralysis | 1 |
| HP:0004437 | Cranial hyperostosis | 1 |
| HP:0010628 | Facial palsy | 1 |
| HP:0011002 | Osteopetrosis | 1 |