PubMed · 8669442
Cerebrofaciothoracic syndrome.
Abstract
We report on a patient with a large septum pellucidum, hypodensity of gray matter, hypertelorism, and costovertebral anomalies. Only 5 previous cases have been described with this distinctive phenotype. Autosomal recessive inheritance seems likely.
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M L Guion-Almeida, A Richieri-Costa, D Saavedra, M M Cohen. 1996-01-11. Cerebrofaciothoracic syndrome.. https://doi.org/10.1002/(sici)1096-8628(19960111)61%3A2%3C152%3A%3Aaid-ajmg9%3E3.0.co%3B2-z
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