Microstomia, lingua scrotalis and microphallus. A new syndrome

I. Hussels Maumenee

Research output: Contribution to journalArticle

Abstract

A 13-year-old boy was referred with unilateral glaucoma secondary to uveitis. On physical examination he was found to be above the 97th percentile for height and weight. He had microstomia and lingua scrotalis; his ears were big and fleshy. There was no thyroid enlargement. Thoracic and abdominal examination were unremarkable. On urogenital examination, he had normal descended testicles and had early pubertal signs. His phallus, however, measured only 1 cm. He had normal range of motion in his joints; his hands were flat and somewhat poorly differentiated. He had postaxial branchydactyly of his feet and mild hallux valgus bilaterally. On neurologic examination, his intelligence was low-normal. The cranial nerves were intact; so was sensation, tonus and motor strength. The deep tendon reflexes were present in all limbs and there were no pathologic reflexes. The family history was negative for lingua scrotalis, microstomia and microphallus. He is the eighth of 9 sibs. His father was 35 and his mother 31 years old at the time of his birth.

Original languageEnglish (US)
Number of pages1
JournalBirth Defects: Original Article Series
Volume11
Issue number5
StatePublished - Jan 1 1975

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

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