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Two cases of isolated deficiency of all four limbs diagnosed antenatally with a review of the literature

Clinical Radiology Department, St Thomas Hospital, London SE1 7EH, UK

Correspondence: ^* Author to whom correspondence should be addressed.

This excerpt was created in the absence of an abstract.

Congenital absence of a limb (amelia) is extremely rare with an incidence ranging from between 0.05 to 0.15 per 10000 live births with total absence of an upper limb having an incidence of between 0.02 to 0.07 per 10000 live births (Birch-Jensen, 1949; Bod et al, 1983; Froster-Iskenius & Baird, 1990; Kallen et al, 1984). The different rates quoted probably reflect the different periods over which the cases were collected in the various studies, ranging from 3 to 32 years, rather than a true variation.

Complete absence of all four limbs is particularly unusual. Froster-Iskenius and Baird identified two cases amongst 1213913 consecutive live births in British Columbia between 1952 and 1984, one of which was associated with thalidomide exposure (Froster-Iskenius & Baird, 1990). In their search of the world literature, Dresher and MacDonell identified only 11 cases, including one described in 1886. To these they added a further two cases (Dresher & MacDonell, 1965).

We present two cases of severe limb reduction diagnosed by ultrasound scanning during the second trimester. In one case all four limbs were absent and in the other one limb was absent and there was severe reduction of the other three.

A 37 year old Indian (G7, P6) presented for a routine ultrasound examination at 19 weeks. She had no family history of congenital abnormalities. There were no complications to the pregnancy at this time.

A single live fetus of 19 weeks gestation was demonstrated. All intracranial and intra-abdominal structures were normal and correctly sited.

Key Words: Congenital limb reduction anomalies • Amelia • Sonography • Prenatal diagnosis • Associations • Classification