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

D. Wieczorek, G. Gillessen-Kaesbach, E. Passarge

    8 Citations (Scopus)

    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.

    Original languageEnglish
    JournalGenetic Counseling
    Volume6
    Issue number4
    Pages (from-to)297-302
    Number of pages6
    ISSN1015-8146
    Publication statusPublished - 1995

    Research Areas and Centers

    • Research Area: Medical Genetics

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