Parietal foramina with cleidocranial dysplasia
Summary
Excerpted from the GeneReview:Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Lampros A Mavrogiannis
- Andrew OM Wilkie
- view full author information
Available tests
12 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (12 available)
Clinical features
Help- Abnormality of the integument
- Dermoid cyst
Dermoid cyst
- MedGen UID: 41504
- Concept ID: C0011649
- Finding: Neoplastic Process
Abnormality of the integument
- Dermoid cyst
- Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Parietal foramina
Parietal foramina
- MedGen UID: 505331
- Concept ID: CN002451
- Finding: Finding
Abnormality of the musculoskeletal system
- Short clavicles
Short clavicles
- MedGen UID: 96529
- Concept ID: C0426799
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Widely patent fontanelles and sutures
Widely patent fontanelles and sutures
- MedGen UID: 336570
- Concept ID: C1849300
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
- Ear malformation
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Microtia
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