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Lethal Pallister-Killian syndrome: Phenotypic similarity with Fryns syndrome

✍ Scribed by Rodríguez, José Ignacio ;Garcia, Isabel ;Alvarez, Javier ;Delicado, Alicia ;Palacios, José

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
734 KB
Volume
53
Category
Article
ISSN
0148-7299

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Fryns syndrome is a lethal autosomal recessive multiple congenital anomaly syndrome characteristic "coarse" facies, cleft palate, di- aphragmatic hernia, and distal digital hypoplasia. The appearance of the face and digits is very similar to that observed in Pallister-Killian syndrome (mosaic isochr