Contiguous gene syndromes: A component of recognizable syndromes
β Scribed by Roy D. Schmickel
- Book ID
- 119461888
- Publisher
- Elsevier Science
- Year
- 1986
- Tongue
- English
- Weight
- 900 KB
- Volume
- 109
- Category
- Article
- ISSN
- 1097-6833
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Genitopatellar syndrome is a newly described condition, subject of a single literature report to date. The condition comprises absent patellae, genital and renal malformations, joint dislocation, and mental retardation. Recurrence has been recorded in two kindreds, consistent with autosomal recessiv
CHARGE association was initially delineated as a non-random pattern of congenital anomalies that occurred together more frequently than one would expect on the basis of chance. It occurs with an estimated frequency of 1:10,000Β±15,000 and is a common cause of multiple congenital anomalies. Within the