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Terminal deletion 1q43 in a newborn with hydrocephalus
1Disciplina de Genética, Escola Paulista de Medicina, Sao Paulo, Brazil.
Annales De Genetique
|January 1, 1987
Abstract:
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.