Fryns syndrome survivors and neurologic outcome
β Scribed by Van Hove, Johan L. K. ;Spiridigliozzi, Gail A. ;Heinz, Ralph ;McConkie-Rosell, Allyn ;Iafolla, A. Kimberly ;Kahler, Stephen G.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 756 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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Trisomy 22 was detected in a 32-week-old fetus born to an overweight mother with hypertension. Severe intrauterine growth retardation was associated with phenotypic manifestations of Fryns syndrome: diaphragmatic hernia, facial defects, and nail hypoplasia with short distal fifth phalanges. This is
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