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Updated: Jun 1, 2026
07:11
Assessment of the Efficacy of An Osteopathic Treatment in Infants with Biomechanical Impairments to Suckling
Published on: February 5, 2019
[Osteopathia striata with cranial sclerosis].
Mafalda Barbosa1, Bram Perdu, Virgílio Senra
1Centro de Genética Médica Dr. Jacinto Magalhães, Departamento de Genética, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto.
Acta Medica Portuguesa
|June 2, 2011
Summary
This study details a rare genetic disorder, Osteopathia Striata with Cranial Sclerosis, identified in a female patient. Genetic analysis confirmed the diagnosis, enabling crucial genetic counseling and prenatal diagnosis for affected families.
Area of Science:
- Medical Genetics
- Radiology
- Pediatrics
Background:
- Osteopathia Striata with Cranial Sclerosis (OSCS) is a rare genetic disorder.
- It is characterized by distinctive bone abnormalities and can present with various developmental issues.
Observation:
- A female patient exhibited failure to thrive, laryngotracheomalacia, conductive deafness, and facial dysmorphisms.
- Skeletal surveys revealed cranial vault thickening and characteristic bone striations.
- Temporal bone CT scans showed cranial base thickening and auditory canal abnormalities.
Findings:
- Radiological findings were consistent with Osteopathia Striata with Cranial Sclerosis.
- Genetic testing identified a mutation in the WTX gene, confirming the OSCS diagnosis.
- This genetic finding is crucial for accurate diagnosis and understanding disease mechanisms.
Implications:
- The confirmed diagnosis allows for targeted patient management and monitoring.
- Genetic confirmation facilitates accurate genetic counseling for the family.
- Prenatal diagnosis is now possible for future pregnancies at risk for OSCS.
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