Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up

Clin Dysmorphol. 2003 Oct;12(4):221-5. doi: 10.1097/00019605-200310000-00002.

Abstract

We describe a male patient with lobar holoprosencephaly, ectrodactyly, and cleft lip/palate, a syndrome which has been seen previously in only six patients. In addition, our patient developed hypernatraemia, which has been described in three patients before.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Child
  • Cleft Lip / complications
  • Cleft Lip / pathology*
  • Cleft Palate / complications
  • Cleft Palate / pathology*
  • Fingers / abnormalities*
  • Follow-Up Studies
  • Foot Deformities, Congenital / complications
  • Foot Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / complications
  • Hand Deformities, Congenital / diagnostic imaging
  • Holoprosencephaly / complications
  • Holoprosencephaly / diagnostic imaging*
  • Humans
  • Hypernatremia / complications
  • Infant
  • Male
  • Radiography