ISSN:
1432-1076
Keywords:
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
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00439020
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