Brief clinical report: the del(4) (q31) syndrome- a recognizable disorder with atypical Robin malformation sequence.
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 leads to 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.
D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D007223:Infant; D010855:Pierre Robin Syndrome / Q000235:genetics*