Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus

Am J Med Genet. 1991 Nov 1;41(2):169-72. doi: 10.1002/ajmg.1320410206.

Abstract

We describe an infant with clinically apparent oto-palatal-digital syndrome Type II (OPD II), who, in addition, also has hydrocephalus and cerebellar hypoplasia. This second X-linked disorder has not been reported previously to occur in association with OPD II. This patient had 2 maternal uncles who died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II. We suggest that these 2 entities may be located near one another on the X chromosome, and that both loci are affected in this family.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Cerebellum / abnormalities*
  • Cleft Palate / genetics*
  • Coloboma / genetics
  • Hearing Loss / genetics*
  • Hearing Loss, Bilateral / congenital
  • Hearing Loss, Bilateral / genetics
  • Hearing Loss, Sensorineural / congenital
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Hydrocephalus / genetics*
  • Infant, Newborn
  • Iris / abnormalities
  • Limb Deformities, Congenital
  • Male
  • Retina / abnormalities
  • Syndrome
  • X Chromosome*