SUMMARYThe malformative syndrome with cryptophthalmos is characterized by cryptophthalmos or congenital symblepharon of the upper lid, dyscephalia with malformations of the ears, nose and mouth, syndactylia, malformations of the urogenital organs and other less constant anomalies.
SUMMARYIn a family with 528 members, in 7 generations, 162 (47% of the 347 examined patients) showed a Waardenburg syndrome. The frequencies of the different signs are as follows: lateral displacement of the canthi interni and lacrimal puncta: 76%; hyperplasia of the nose root: 54%; hyperplasia of the eyebrows: 52%; deafness: 9%; heterochromia of the iris: 9%; partial albinism: 6%.
The authors report that observation of atebrin-stained human hair roots under the fluorescent microscope is an easy, c;uick, and efficient method for accurate counting of Barr bodies in females, Y bodies in males. and, simultaneously, both types of bodies in Klinefelter patients. Schmid, W. (1967). Sex chromatin in hair roots.
78-80.Cytogenetics 6 , 342-349.
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