Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome in monozygotic twins: two cases report and reviews

J Med Assoc Thai. 2010 Oct:93 Suppl 4:S78-82.

Abstract

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (or Hay-Wells syndrome) is a rare congenital malformation. Our first cases were a pair of female monozygotic twins with AEC syndrome at Srinagarind Hospital. In this study, we describe monozygotic female twins concordant for ankyloblephaon, ectodermal dysplasia and helical rim deformities, but discordant for cleft, syndactyly of toes, heart and urinary tract abnormalities. Twin A had syndactyly of the right third and fourth toes with incomplete bilateral cleft lip and complete bilateral cleft palate. Twin B had left ventricular enlargement, caliectasia of both kidneys with complete left unilateral cleft lip and cleft palate. The twins were treated by multidisciplinary teams with satisfactory results.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple
  • Cleft Lip / diagnosis
  • Cleft Lip / surgery*
  • Cleft Palate / diagnosis
  • Cleft Palate / surgery*
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / surgery
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / surgery
  • Eyelids / abnormalities
  • Eyelids / surgery
  • Female
  • Humans
  • Infant, Newborn
  • Plastic Surgery Procedures / methods*
  • Treatment Outcome
  • Twins, Monozygotic

Supplementary concepts

  • Hay-Wells syndrome