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Oculo-palato-cerebral syndrome: A third case supporting autosomal recessive inheritance

✍ Scribed by Alanay, Yasemin ;Boduroǧlu, Koray ;Sönmez, Barış ;Orhan, Mehmet


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
114 KB
Volume
130A
Category
Article
ISSN
0148-7299

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✍ Gripp, Karen W.; Donnai, Dian; Clericuzio, Carol L.; McDonald-McGinn, Donna M.; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 215 KB 👁 2 views

We describe a male patient with wide anterior fontanel and metopic suture, hypertelorism, down slanting palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of abdominal organs causing pulmonary hypoplasia and death. Autopsy also showed int