What question did this study set out to answer?

To describe the co-occurrence of medullary thyroid carcinoma with distinct facial and skeletal anomalies and examine their shared genetic basis.

February 1, 1971Clinical Pediatrics

Medullary Carcinoma of the Thyroid

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To describe the co-occurrence of medullary thyroid carcinoma with distinct facial and skeletal anomalies and examine their shared genetic basis.
Clinical and physical evaluation of a young female patient presenting with medullary thyroid carcinoma alongside characteristic craniofacial and orthopedic malformations.
Observed medullary carcinoma of the thyroid concurrent with lip and tongue neuromas, bilateral pes cavus, and slipped capital femoral epiphysis.
Identified these multisystem manifestations as the phenotypic expression of a single pleiotropic gene predisposing individuals to thyroid and adrenal neoplasia.

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Implication

Case report reveals medullary thyroid carcinoma with mucosal neuromas and skeletal defects in a young patient, highlighting a single-gene syndrome requiring careful tumor surveillance.

Cite This Study

Sturtz et al. (1971) studied this question.

synapsesocial.com/papers/6aa8bdb8217dfdd18fef7423 https://doi.org/10.1177/000992287101000208

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Implication

Case report reveals medullary thyroid carcinoma with mucosal neuromas and skeletal defects in a young patient, highlighting a single-gene syndrome requiring careful tumor surveillance.

Medullary Carcinoma of the Thyroid

Key Points

Discussion

Implication

Cite This Study

Medullary Carcinoma of the Thyroid

Key Points

Discussion

Implication

Cite This Study

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