A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters.
We report on the similar phenotypes and clinical course of two sisters. Both patients had an enlarged cisterna magna suggestive of cerebellar hypoplasia, agenesis/hypoplasia of the corpus callosum, Pierre Robin sequence requiring tracheostomy, camptodactyly, microphthalmia, colobomas, seizures, a distinctive facial appearance, global developmental delay, and mental retardation. We propose that the distinct pattern in these sisters constitutes a previously undescribed syndrome of likely autosomal recessive inheritance.
Stevenson
David A
DA
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA.
Carey
John C
JC
D000015:Abnormalities, Multiple; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D010855:Pierre Robin Syndrome / Q000235:genetics*