Terminal deletion 1q43 in a newborn with hydrocephalus.
A male newborn presented the main craniofacial features of the 1q terminal syndrome: prominent metopic sutures, flat nose bridge, wide short nose with anteverted nares, epicantus, telecanthus, long philtrum, thin upper lip with a well defined cupid bow, downturned corners of the mouth, retrognathia. The child also had an aqueductal obstructive hydrocephalus.
D000015:Abnormalities, Multiple; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male