Congenital cholinergic nervous system dysfunction in identical twins
β Scribed by Dr. C. L. Kien; Jurgen Herrmann; Walter Hogan
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 362 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
β¦ Synopsis
Abstract
We report identical male twins with secretory diarrhea, craniofacial abnormalities often found in G syndrome, hypospadias, and abnormalities of the cholinergic nervous system including achalasia, decreased tearing, corneal hypesthesia, positive Mecholyl test (eye and esophagus), and decreased sweating. The children also lacked fungiform papillae but were clinically distinct from patients with either the RileyβDay syndrome or acquired dysfunction of the autonomic nervous system. Assessment of autonomic nervous system function should be considered in infants with recurrent diarrhea or swallowing disorders or in children with morphological characteristics suggesting G syndrome.
π SIMILAR VOLUMES
A de novo and apparently balanced complex chromosome rearrangement (CCR) was found in monozygotic (MZ) twin infants with multiple congenital anomalies. The rearrangement involved 4 chromosomes with 6 breakpoints including 2p23, 2q13, 2q21.1, 3p23, 11q13.1, and 12q24.1. This seems to be the first rep