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  • Title: Brief clinical report: the del(4) (q31) syndrome- a recognizable disorder with atypical Robin malformation sequence.
    Author: Davis JM, Clarren SK, Salk DJ.
    Journal: Am J Med Genet; 1981; 9(2):113-7. PubMed ID: 7258224.
    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 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.
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