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Czech dysplasia: Report of a large family and further delineation of the phenotype

✍ Scribed by Andreas Tzschach; Sigrid Tinschert; Elke Kaminsky; Eugen Lusga; Stefan Mundlos; Luitgard M. Graul-Neumann


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
217 KB
Volume
146A
Category
Article
ISSN
1552-4825

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A patient with partial trisomy 9 (47,XX,+9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable knees. The phenotypic findings are compared with those of other documented cases of total trisomy 9.

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## Abstract Yunis–Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. The molecular basis is unknown. We report on a newborn infant with previously undescribed findings