ISSN:
1435-232X
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary A case of tricho-rhino-phalangeal syndrome associated with short stature of postnatal onset, multiple exostosis and mental retardation (TRP syndrome Type II, or the Langer-Giedion syndrome) is reported. This case was the ninth such instances of this combination to be reported in the world literature. Like the other eight, it was sporadic. In addition, Perthes-disease-like bone changes, speech disturbance and pulmonary stenosis were observed. The mean age of the father, but not the mother, at the birth of the reported cases, including the present one, is higher than that of the general population. The absence of affected siblings in TRP syndrome Type II may exclude recessive inheritance. Rather, the observed increase in paternal age and the low fitness of the patients may point to the possibility that the abnormality is due to a newly-mutated dominant gene, which is eliminated within each generation as soon as it has been produced.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01890109
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