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 Zitate (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.

OriginalspracheEnglisch
ZeitschriftGenetic Counseling
Jahrgang6
Ausgabenummer4
Seiten (von - bis)297-302
Seitenumfang6
ISSN1015-8146
PublikationsstatusVeröffentlicht - 1995

Strategische Forschungsbereiche und Zentren

  • Querschnittsbereich: Medizinische Genetik

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