Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome.

  • 1 May 1971
    • journal article
    • Vol. 7  (6) , 240-6
Abstract
Three brothers with a previously unrecognized pattern of malformations are presented. The syndrome is characterized by short stature; a broad, prominent forehead, hypertelorism, congenital ptosis, a broad, short nose with anteverted nostrils, a long, broad upper lip, low-set, abnormally shaped and posteriorly rotated ears; simian palmar creases; brachyclinodactyly; short fingers; ligamentous laxity allowing for hyperextensibility of the fingers, genu recurvatum, flat feet; and an anomalous penoscrotal configuration resulting in "saddle" deformity with scrotal folds incircling the base of the penis. This disorder is apparently transmitted as an X-linked recessive trait. It is important to recognize this syndrome because of its heritability and for prevention of neurologic problems consequent to ligamentous laxity and malformation of cervical vertebras.

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