The del(4) (q31) syndrome-A recognizable disorder with atypical Robin malformation Sequence
✍ Scribed by Davis, Jeffrey M. ;Clarren, Sterling K. ;Salk, Darrell J. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 287 KB
- Volume
- 9
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
Deletions of the terminal region of the long arm of chromosome 4 have been reported previously in 6 patients. With the addition of our patient with 46,XX,del(4) (pter→q31:), it becomes clearer that this is a recognizable syndrome. None of the 7 patients has had prenatal growth deficiency, while postnatal growth deficiency has been variable. The syndrome is typified by a Robin malformation sequence without apparent catch‐up growth of the mandible, anomalous auricles, a short nasal septum with a depressed nasal bridge, absent 5th finger creases, clinodactyly, and displacement of the toes. Mental retardation has been found consistently.