The del(4) (q31) syndrome‐A recognizable disorder with atypical Robin malformation Sequence
- 1 January 1981
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 9 (2) , 113-117
- https://doi.org/10.1002/ajmg.1320090205
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.Keywords
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