Lethal neonatal mandibuloacral dysplasia
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Seftel, Matthew D.; Wright, Colleen A.; Po, Patrick Li Wan; de Ravel, Thomy J.L.
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Article
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1996
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John Wiley and Sons
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English
⚖ 279 KB
We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows, pseudo-exophthalmos, micrognathia, bulbar digits, and short clavicles were present. In addition, we describe for the first time the presence of glandular hypospadias in this d