A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?

Genet Couns. 1995;6(4):297-302.

Abstract

A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?: We present a nine-month-old boy with microcephaly, cataracts, intracerebral calcification, dysmorphic facial signs, and a clinical course resembling a congenital intrauterine infection. The serological screening for connatal infections repeatedly was negative. Patients with congenital infection-like syndrome previously described showed similar clinical features. The recurrence of the disease in sibships suggests autosomal recessive inheritance. We add a possibly new patient with this condition, review the literature, and demonstrate the difficulties in making the diagnosis of an infection-like syndrome in a single patient.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain Diseases / congenital*
  • Brain Diseases / genetics
  • Calcinosis / congenital*
  • Calcinosis / genetics
  • Cataract / congenital*
  • Cataract / genetics
  • Child Development Disorders, Pervasive / diagnosis
  • Facial Bones / abnormalities
  • Female
  • Follow-Up Studies
  • Genes, Recessive
  • Humans
  • Infant
  • Infections / congenital*
  • Infections / diagnosis
  • Infections / genetics
  • Male
  • Microcephaly / genetics*
  • Pregnancy
  • Skull / abnormalities