The G syndrome--additional observations.
We are reporting the second lethal case of G syndrome occurring in a female. The developmental defects in this patient included posteriorly angulated auricles, bifid tip of tongue with a long frenulum, hypoplasia of the epiglottis and larynx, rocker bottom feet, and hypertrophied labia majora and clitoris. Additional anomalies not previously reported in the G syndrome were circumvallate placenta, and incompletely perforated hymen.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004423:Ear / Q000002:abnormalities; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities; D010375:Pedigree; D013577:Syndrome