Porencephaly

A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.

Micrognathia

Developmental hypoplasia of the mandible.


合計: 1

                       


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PMID (PMCID)
9783717
 MALE Infant, Newborn
Triophthalmia and facial clefting: a case report.
Tayel SM, Sabry MA, Kader NA, Farah S, Al-Awadi SA, Farag TI.
J Med Genet. 1998;35(10):875-7.
We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD.