Porencephaly and transverse limb defects following severe maternal trauma in early pregnancy.
A 13 year old boy with mental retardation, hemiatrophy and left hemiplegia, right hemifacial microsomia and transverse digital amputations is reported. He is moderately mentally retarded, experiences grand mal seizures and has evidence of a porencephalic cyst in the right frontotemporal region on CT scan. At 52 days post conception his mother was involved in a road traffic accident and suffered extensive bruising of the abdomen and concussion. It is suggested that the patient's congenital anomalies are a consequence of hypoxia and thrombo-embolic events sustained during early pregnancy.
Viljoen
D L
DL
Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
D000015:Abnormalities, Multiple / Q000209:etiology*; D000063:Accidents, Traffic; D000293:Adolescent; D001921:Brain / Q000002:abnormalities*; D005146:Facial Asymmetry / Q000209:etiology; D005260:Female; D005311:Fetal Hypoxia / Q000209:etiology; D005865:Gestational Age; D006429:Hemiplegia / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D017880:Limb Deformities, Congenital; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications; D013923:Thromboembolism / Q000209:etiology; D014947:Wounds and Injuries / Q000150:complications*