Glossary in Congenital Malformations

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General:

#Iniencephaly: (Ini-, Greek, occipit; inion for nape of neck) Iniencephaly consists of deficiency of the occipital bone, cervicothoracic spinal retroflexion, and rachischisis. Iniencephaly differs from anencephaly in that a cranial cavity is present and skin covers the head and retroflexed region. The neural tube lesion is at the level of the cervical spine and can vary from spina bifida covered by intact skin to meningomyeloencephalocele to open rachischisis. The brain is present. According to Friede, anencephaly and iniencephaly are basically similar; their biologic statistics are similar. Like encephalocele and anencephaly, iniencephaly is often associated with hypoplastic lungs and other internal anormalies. Iniencephaly is more commonly seen in girls.

·         Closed iniencephaly (clausus): If the occipital bone is not malformed.

·         Opened iniencephaly (apertus): If the occipital bone is hypoplastic.

Syndromes and Sequences:  Head

#Isolated lissencephaly sequence: Related to deletion of LIS1 gene on chromosome 17p13.3 (same gene as involved in Miller-Dieker). Complete deletion of the gene is common. Clinically, perinatal problems are uncommon and the most patients present with seizures; some present with developmental delay. The five years survival rate is about 91%. Otherwise, they are clinically similar to Miller-Dieker syndrome. Pathologically, there is microcephaly. Dsymorphic facial features are uncommon. The brains usually show a mixture of agyria and pachygryia or predominantly pachygyria. See also Miller-Dieker syndrome.

NeuroLearn NeuroHelp Malformations General Syndromes For Comment: KarMing-Fung@ouhsc.edu