Familial Del(18p) syndrome

Am J Med Genet. 2001 Feb 15;99(1):67-9. doi: 10.1002/1096-8628(20010215)99:1<67::aid-ajmg1118>3.0.co;2-v.


We report on sibs and their mother, all with del(18p). The propositus, an 11-month-old, had developmental delay, round face, hypertelorism, large ears, broad nasal bridge, upturned nostrils, micrognathia, a high palate, redundant skin around the neck, micropenis, and cryptorchidism. The elder sister, a two and 7/12-year-old, had round face, hypertelorism, broad nasal bridge, narrow and high palate, redundant skin around the neck, short fingers, and hypoplastic genitalia. Their mother had microcephaly, hypertelorism, prominent columella, broad nasal bridge, wide mouth, high palate, malaligned teeth, and clinodactyly of the fifth fingers. Serial photographs of the mother showed that the characteristic round face in infancy changed to long face with age. The present report suggests that the mother with del(18p) may be fertile, and proper genetic counseling and long follow-up is necessary for the patient with del(18p) syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Adult
  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18 / genetics*
  • Developmental Disabilities / pathology
  • Family Health
  • Female
  • Humans
  • Hypertelorism / pathology
  • Infant
  • Karyotyping
  • Syndrome