Sensorineural-associated hearing impairment and hoarseness was also observed in a 10-year-old girl and her father, and in a number of other cases.Other characteristics seen with the syndrome include developmental delay, growth retardation, pulmonary stenosis (an obstruction of blood-flow from the right ventricle of the heart to the pulmonary artery) with associated dyspnea (shortness of breath), and renal agenesis (failure of the kidneys to develop during the fetal period). Undescended testes, hyperactivity and aggressive behavior have also been noted. Genetics
Nasodigitoacoustic syndrome is thought to be caused by a mutation in a gene on the X chromosome. A 2007 study concluded, based on analysis of microsatellite markers (small gene sequences found in common among individuals having the same ethnicity, ancestry or genetic disease) of the family described by Keipert, that this gene was likely located on the long arm of the X chromosome between positions Xq22.2–q28. This is not definitive, however, and no specific gene has been named.The syndrome is strongly believed to be inherited in an X-linked recessive manner. When a female carries a mutated gene on one of her two copies of the X chromosome, there is a 50% chance of passing the mutation on to her children. Much like her, a daughter inheriting this mutation will be a carrier, but will not herself have the associated disease. However, a son who inherits the mutation will have the disease; this is because males have only one copy of the X chromosome and therefore could only express the disease mutation.
Dipygus is a severe congenital deformity where the body axis forks left and right partway along the torso with the posterior end (pelvis and legs) duplicated. Myrtle Corbin was a dipygus; she married and had five children. In human cases, the inner two of the four hindquarters develop much smaller than normal. This is a type of "teras catadidymum" ("monster twinned below"). Another sort of deformity with extra legs can happen from a degenerated conjoined twin, as may have happened with Frank Lentini with his third leg. Signs
Dipygus manifests as duplicated lower limbs and could include additional organs or bodily structures. Causes
Dipygus is caused by genetic, environmental, or teratogenic factors. It occurs early in intrauterine life. == References ==