Zeitschrift für Kinderheilkunde

, Volume 117, Issue 1, pp 1–18

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

  • John M. Opitz
  • Elisabeth G. Kaveggia
Article

Abstract

Three brothers and two of their male first cousins were affected with a previously apparently undefined multiple congenital anomaly, mental retardation syndrome which was designated the FG syndrome and which consists of variable growth problems with a disproportionately large head, characteristic appearance and minor anomalies, imperforate anus, mild to severe mental retardation and congenital hypotonia; pyloric stenosis, hypoplastic left heart, generalized dilatation of the urinary tract, cutaneous syndactyly of third and fourth fingers, and severe craniosynostosis were seen each in 1 patient. Partial agenesis of the corpus callosum seen in 1 patient is suspected in another on the basis of EEG abnormalities. 1 boy died neonatally with congenital heart disease, and 2 others of pneumonia at 20 and 23 months. The FG syndrome is an X-linked recessive condition; heterozygotes appear grossly normal.

Key words

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome Growth disturbances Increased headsize Hypotonia Imperforate anus Partial agenesis of corpus callosum Pyloric stenosis Generalized dilatation of urinary tract Hypoplastic left heart defect Syndactyly of toes and/or fingers Craniosynostosis X-linked inheritance 

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Copyright information

© Springer-Verlag 1974

Authors and Affiliations

  • John M. Opitz
    • 1
  • Elisabeth G. Kaveggia
    • 2
  1. 1.Departments of Pediatrics and Medical GeneticsUniversity of Wisconsin Center for Health Sciences and Medical SchoolMadisonUSA
  2. 2.Central Wisconsin Colony and Training School, and Department of PediatricsUniversity of Wisconsin Center for Health Sciences and Medical SchoolMadisonUSA

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