Denouement and Discussion
Major manifestations include total absence of the tongue (occasionally only a small portion of the tongue may be present posteriorly) associated with failure of development of the distal portion of the limbs. Micrognathia is usually quite marked. Other oral findings include missing lower incisors, cleft or high arched palate, intraoral bands, and hypertrophic enlargement of the sublingual and submaxillary glands. Speech is usually not severely impaired. There may be a nasal quality to the voice and difficulty in pronouncing various consonants. Swallowing function is only minimally impaired. Any part of the limbs may be missing, but abnormalities of the digits are most frequently found. Transposition of the abdominal organs and dextrocardia have also been reported. Intelligence is usually normal.
The syndrome does not appear to be inherited. Chromosomal analyses thus far have been normal. Both sexes are equally affected. The etiology is unknown.
The orthopedic and dental abnormalities should be corrected whenever possible.
Gellis SS, Feingold M, Harwin SM, Lorinsky LC. Picture of the Month. Am J Dis Child. 1970;119(3):255–256. doi:10.1001/archpedi.1970.02100050257014
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