Patent ductus arteriosus with a distinctive facial phenotype: Intrafamilial variability of the Char syndrome in a family with twins. B.D. Friedman, L.A. Workman. Perinatal and Pediatric Specialists Medical Group, Inc., Sacramento, CA.

   We report on a family with patent ductus arteriosus and a distinctive facial phenotype in a mother and three of her four children. The findings in this family are similar to a rarely published syndrome first reported by Char (Birth Defects: Original Article Series XIV;6B:303-305, 1978), who described a family with patent ductus arteriosus and an unusual facial phenotype which included a short philtrum, duck-bill lips, ptosis, strabismus, and low set ears.
   The affected individuals in this family include a 36 year-old mother, her 9 year-old son, and twin 5 year-old girls. All of the affected individuals required surgical repair of a patent ductus arteriosus in childhood; none was pre-term. In addition, a distinctive facial phenotype is present which includes a prominent forehead, upslanting palpebral fissures, a broad nasal bridge, a short, broad, flat nasal tip with anteverted nares, a short but prominent philtrum, and full lips with loss of the cupid's bow. The children have bifrontal narrowing with a prominent metopic area, and incurved fifth fingers. Short fifth fingers are present in one of the twins, her brother, and their mother. There is variable widening of the toes, which is most pronounced in the mother, and most commonly of the fifth toe. Other findings include a history of mild mixed hearing loss requiring hearing aids in the twins, who have severe receptive language, expressive language and articulation deficits. The mother had surgery for strabismus.
   The findings in this family are consistent with previous reports of the Char syndrome, which includes autosomal dominantly inherited patent ductus arteriosus with a distinctive facial phenotype and variable other features, including hearing impairment, fifth finger clinodactyly, broad toes, and strabismus. Individuals presenting with a patent ductus arteriosus should be evaluated for similar phenotypic findings. Consideration should be given to audiologic and ophthalmologic testing in affected children and appropriate recurrence risk counseling should be offered.