Keywords : Amelia Limb defects Teratogenic agents
Amelia is complete absence of a limb that presents as an isolated defect or with associated malformations. Different causal factors like thalidomide, alcohol, amniotic band syndrome, maternal diabetes and autosomal recessive mutations have been proposed.
We report a case of isolated bilateral upper limb amelia
in a woman on antituberculous therapy (ATT) who consumed an unidentified drug for sex selection during pre
conceptional period and first trimester.
Thirty-two year old para 4 was admitted with severe
anaemia and puerperal pyrexia following home delivery of
a live born male infant conducted by trained birth attendant
in a village 12 days back. Except for absence of both upper
limbs, baby was otherwise healthy with no other congenital
dysmorphic features (Fig. 1). She had healthy living three
daughters, all born by uneventful vaginal deliveries. Patient
gave history of having taken two courses of AKT for
6 months each, one 3 years back when she was not pregnant and the other was started from sixth week of gestation
during this pregnancy. The patient received the combination of rifampin, isoniazid and ethambutol. Desirous of
having a male baby, she consulted a quack who gave her
some medications in powder form. She took them in the
month preceding the one with missed period and also in the
first trimester. She did not take any antenatal care and gave
birth to an infant with absent both upper limbs. X-ray
examination of baby’s whole body did not reveal any other
bony anomalies (Fig. 2). Ultrasound examination for ruling
out internal organ malformations was reported to be normal. Mother was investigated for puerperal pyrexia. She
received four units of packed red cells. At the time of
discharge, all her biochemical investigations including
blood sugar examination were normal.
Amelia is an extremely rare congenital anomaly with an incidence of 1.5 per 100,000 live births and 7.9 per 10,000 still births. Upper limb amelia has an incidence of 7 per 1,000,000 live births. Usually bilateral branchial amelia is associated with other malformations such as facial clefts, renal anomalies, ear anomalies and central nervous system malformations. Such infants have a very poor prognosis and usually die within first year of life.
In Indian sub-continent desire for having a male baby dominates fertility and population statistics. Consumption of unknown drugs for having a male child is very common in this part of the world, especially among illiterate women from rural areas. We did not know the exact nature of the drug taken for sex selection. But we feel that it had a definite role to play in this malformation as AKT is relatively safe in pregnancy with negligible risk of teratogenicity. This report also highlights the existing malpractices by quacks who continue to flourish thanks to ignorance and gender bias amongst the uneducated strata of society.
