Lina Basel-Vanagaite, Nufar Marcus, Gil Klinger, Mordechai Shohat, Orly Levit, Boaz Karmazin, Ellen Taub, Lea Sirota
We report two sisters with a new syndrome of simplified gyral pattern, normal head circumference at birth but with subsequent development of microcephaly, intractable seizures, and early death. Dysmorphic features included coarse face, hypertrichosis, short nose, paranasal widening, long philtrum, short neck, upper limb micromelia, single transverse palmar lines, and clasp thumbs. The proband had repeated convulsions from shortly after birth and she required continuous artificial ventilation. Neurological examination showed absent sucking, rooting, Moro and grasping reflexes...
June 1, 2003: American Journal of Medical Genetics. Part A