Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome.
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.
D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive; D005835:Genitalia / Q000002:abnormalities*; D006547:Hernia / Q000150:complications; D006801:Humans; D007596:Joints / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D012730:Sex Chromosomes; D013577:Syndrome