Miller-Dieker Syndrome consists of severe type I lissencephaly and a characteristic abnormal facial appearance at birth and may progress to severe neurologic defects such as intractable seizure and growth failure. This syndrome is associated with microdeletion of p13.3 in the distal portion of chromosome 17. Lissencephaly is a brain malformation manifested by a smooth cerebral surface, thickened cortical mantle, and microscopic evidence of incomplete neuronal migration. We diagnosed Miller-Dieker syndrome in a case in which there are charcteristic craniofacial appearance and neurologic symptoms and type I lissencephaly on the MRI. : We confirmed this syndrome with the a microdeletion of p13.3 portion in the short arm of chromosome 17 by the FISH method. We have experienced a baby with this syndrome, who showed characterisic craniofacial abnormalities and a microdeletion of p13.3 portion in the short arm of chromosome 17. Then we report this rare case with brief review of literature.
Arm ; Brain ; Chromosomes, Human, Pair 17 ; Classical Lissencephalies and Subcortical Band Heterotopias* ; Craniofacial Abnormalities ; Lissencephaly ; Magnetic Resonance Imaging ; Neurologic Manifestations ; Neurons ; Parturition ; Seizures

Jacobsen syndrome is a clinical disorder characterized by a deletion of the terminal band 11q23. The features of the syndrome include growth retardation, psychomotor retardation, trigonocephaly, downward slanting palpabral fissures, retrognathia, micrognathia, hammer toes, thrombocytopenia and cardiac abnormalities. The disorder was first observed by Jacobsen in 1973. We herein report a case of Jacobsen syndrome in male premature neonate born with trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia. The chromosomal study revealed 46, XY, del(11)(q23). The thrombocytopenia improved spotaneously by 3 months of age. The infant underwent a palliative operation for Tetralogy of Fallot at 11 months of age. A brief review of literature is included.
Craniosynostoses ; Hammer Toe Syndrome ; Humans ; Infant ; Infant, Newborn ; Jacobsen Distal 11q Deletion Syndrome* ; Male ; Retrognathia ; Tetralogy of Fallot ; Thrombocytopenia

Jacobsen syndrome is a clinical disorder characterized by a deletion of the terminal band 11q23. The features of the syndrome include growth retardation, psychomotor retardation, trigonocephaly, downward slanting palpabral fissures, retrognathia, micrognathia, hammer toes, thrombocytopenia and cardiac abnormalities. The disorder was first observed by Jacobsen in 1973. We herein report a case of Jacobsen syndrome in male premature neonate born with trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia. The chromosomal study revealed 46, XY, del(11)(q23). The thrombocytopenia improved spotaneously by 3 months of age. The infant underwent a palliative operation for Tetralogy of Fallot at 11 months of age. A brief review of literature is included.
Craniosynostoses ; Hammer Toe Syndrome ; Humans ; Infant ; Infant, Newborn ; Jacobsen Distal 11q Deletion Syndrome* ; Male ; Retrognathia ; Tetralogy of Fallot ; Thrombocytopenia