✦ LIBER ✦

Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?

✍ Scribed by Anne-Laure Mosca; Nicole Laurent; Laurent Guibaud; Patrick Callier; Christel Thauvin-Robinet; Francine Mugneret; Frédéric Huet; Marianne Grimaldi; Jean-Bernard Gouyon; Dominique Sandre; Laurence Faivre

Book ID: 116433001
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 764 KB
Volume: 50
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2006.08.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Familial lissencephaly with cleft palate

Familial lissencephaly with cleft palate and severe cerebellar hypoplasia

✍ Kerner, Berit; Graham, John M.; Golden, Jeffrey A.; Pepkowitz, Samuel H.; Dobyns 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 2 views

Lissencephaly is a brain malformation characterized by absence of gyral formation, resulting in a smooth brain surface. Histologic study shows severe anomalies of cerebral cortical development. Several lissencephaly syndromes have been described. Here we report a familial syndrome of lissencephaly,

Severe micrognathia, cleft palate, absen

Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: Cerebro-costo-mandibular syndrome or a new syndrome?

✍ Kirk, Edwin P.E.; Arbuckle, Susan; Ramm, Phillip L.; Ad�s, Lesley C. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

We report on a family in which two sibs had apparently absent ribs and severe micrognathia on prenatal ultrasonography. The pregnancies were terminated at 19 and 12 weeks of gestation, respectively. Autopsy findings in the first fetus (19 weeks of gestation) included severe micrognathia, a Ushaped d

Diencephalic neuronal hamartoma associat

Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome

✍ J. P. Rossiter; M. M. Khalifa; S. Nag 📂 Article 📅 2000 🏛 Springer-Verlag 🌐 English ⚖ 558 KB

Mandibulofacial dysostosis, severe lower

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndrome?

✍ Roseli Maria Zechi-Ceide; Maria Leine Guion-Almeida; Fernanda Sarquis Jehee; Kat 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB 👁 1 views

Misclassification risk of patients with

Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?

✍ Schulze, Birgit R. B. ;Tariverdian, Gholamali ;Komposch, Gerda ;Stellzig, Angeli 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 258 KB 👁 2 views

Mental retardation, congenital heart def

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies

✍ Hamel, Ben C. J. ;Mariman, Edwin C. M. ;van Beersum, Sylvia E. C. ;Schoonbrood-L 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 653 KB

The