Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited

G Neuhäuser; E G Kaveggia; T D France; J M Opitz

doi:10.1007/BF00443795

Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited

Z Kinderheilkd. 1975 Jul 1;120(1):1-18. doi: 10.1007/BF00443795.

Authors

G Neuhäuser, E G Kaveggia, T D France, J M Opitz

PMID: 1172332
DOI: 10.1007/BF00443795

Abstract

A previously apparently undescribed "syndrome" is reported in which megalocornea and iris anomalies are accompanied by minor facial and skeletal anomalies, severe mental retardation, hypotonia, and seizures. The condition was found in 3 siblings of one family and in 4 sporadic cases; it is thought to be recessively inherited.

Publication types

Research Support, U.S. Gov't, P.H.S.

MeSH terms

Cerebral Palsy / genetics*
Child, Preschool
Cornea / abnormalities*
Dermatoglyphics
Electroencephalography
Genes, Recessive
Humans
Infant, Newborn
Intellectual Disability / genetics*
Iris / abnormalities
Muscle Tonus
Pedigree
Seizures / genetics*
Syndrome