A syndrome associated with microcephaly, mental
deficiency, and chorioretinal dysplasia.
CDMMS; Microcephaly with Chorioretinopathy.
Approximately 20 cases have been
described in only about 10 families. Transmission is most likely autosomal dominant,
although autosomal recessive inheritance has also been suggested.
The diagnosis is mainly based on the clinical
findings of microcephaly, mild mental retardation, and chorioretinal
dysplasia. Other features may include frontal bossing, lissencephaly, and
lacunar retinal depigmentation. Microphthalmia, microcornea, and ocular
pterygium have been described in one family. One reported family also had
polycystic kidney disease, which was not thought to be associated with this
Anesthesia in this condition has not
been described. The features of the disease suggest patient cooperation may
be limited. Anxiolytic and/or sedative premedication and the presence of the
primary caregiver during induction of anesthesia may be helpful.
Hordijk R, Van de Logt F, Houtman WA, et al: Chorioretinal
dysplasia-microcephaly-mental retardation syndrome: Another family with
autosomal dominant inheritance. Genet Couns
Sadler LS, Robinson LK: Chorioretinal dysplasia-microcephaly-mental
retardation syndrome: Report of an American family. Am J Med Genet