Lethal neonatal mandibuloacral dysplasia

✍ Scribed by Seftel, Matthew D.; Wright, Colleen A.; Po, Patrick Li Wan; de Ravel, Thomy J.L.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 279 KB
• Volume: 66
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19961202)66:1<52::aid-ajmg11>3.0.co;2-p

✦ Synopsis

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 disorder. We propose that this neonatally lethal case represents severe expression of mandibuloacral dysplasia.