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In utero diagnosis of benign fetal macrocephaly
R DeRosa1, R R Lenke, T W Kurczynski
1Department of Obstetrics and Gynecology, Medical College of Ohio, Toledo 43699-0008.
Abstract:
Benign familial macrocephaly is an autosomal dominant disorder associated with a large absolute circumference of the head. In this disorder serial growth demonstrates a proportional rather than an excessive rate of growth. To date, we are not aware of any published case reports that confirm the diagnosis prenatally. We report a case of benign familial macrocephaly diagnosed in utero by ultrasonographic evaluation. This case report points out the necessity of combining appropriate family history and physical examination in cases of prenatally detected anomalies.
Insights
Benign familial macrocephaly, an autosomal dominant disorder causing large head circumference, was diagnosed prenatally via ultrasound. This highlights the importance of family history and physical exams for prenatal anomaly detection.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Pediatric Neurology
Background:
- Benign familial macrocephaly is an autosomal dominant condition characterized by an enlarged head circumference.
- Growth in affected individuals is proportional, not excessively rapid.
- Prenatal diagnosis of this condition has not been previously reported.
Observation:
- A case of benign familial macrocephaly was diagnosed in utero.
- Ultrasonographic evaluation was used to confirm the diagnosis.
- The diagnosis was supported by family history and physical examination.
Findings:
- This report presents the first documented case of prenatal diagnosis of benign familial macrocephaly.
- Ultrasonography can identify features of benign familial macrocephaly during pregnancy.
- Integration of clinical data is crucial for accurate prenatal diagnosis.
Implications:
- This case expands the diagnostic capabilities for benign familial macrocephaly.
- It underscores the value of combining genetic history with imaging in prenatal evaluations.
- This finding may aid in counseling families regarding genetic conditions affecting fetal growth.