Isolated complex limb reduction abnormality diagnosed antenatally.
Congenital limb reduction defects are rare lesions that are usually associated with other anomalies. Terminal defects are the commonest reduction defects. The aetiology seems to be multifactorial. We present a case of congenital terminal deficiency of the same side of the upper and lower limbs diagnosed by ultrasound scanning during the second trimester. The fetus had an absent right fibula and right foot, a hypoplastic right hand and left talipes equinovarus. The pregnancy was terminated. Micrognathia was the only associated anomaly found on postmortem examination. The cause of this isolated anomaly is unknown but, because of the very variable presentation of limb reduction defects, could possibly fit into the categories so far described in the literature.
Rizk
D E
DE
Department of Obstetrics and Gynaecology, Llandough Hospital, South Glamorgan, Cardiff, United Kingdom.
Bates
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A
Evans
J
J
D000328:Adult; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital; D009056:Mouth Abnormalities / Q000175:diagnosis; D011247:Pregnancy; D016216:Ultrasonography, Prenatal