Unilateral Ectrodactyly in a Newborn with Trisomy 18 Syndrome: An Unusual Association

• Published in: Journal of the College of Physicians and Surgeons--Pakistan Vol. 25; no. 8; pp. 619 - 620
• Main Authors: Kislal, Fatih Mehmet, Altuntas, Nilgun, Ozdemir, Osman, Ceylaner, Serdar, Kislal, Mustafa Hayri, Andiran, Nesibe
• Format: Journal Article
• Language: English
• Published: Pakistan College of Physicians and Surgeons Pakistan 01.08.2015
• Subjects: Chromosomes, Human, Pair 18 - genetics; Edwards' syndrome; EEC syndrome; Fingers - abnormalities; Foot - diagnostic imaging; Hand Deformities, Congenital - diagnostic imaging; Hand Deformities, Congenital - genetics; Humans; Infant, Newborn; Infant, Small for Gestational Age; Limb Deformities, Congenital - diagnosis; Limb Deformities, Congenital - genetics; Lower Extremity Deformities, Congenital - diagnosis; Lower Extremity Deformities, Congenital - genetics; Male; Radiography; Trisomy - genetics; Trisomy 18 Syndrome; Pakistan
• ISSN: 1022-386X; 1681-7168

The case of a newborn male with trisomy 18 syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented. There are only 5 cases of trisomy 18 syndrome associated with ectrodactyly in the literature. We present a case of trisomy 18 syndrome with unilateral ectrodactyly of the left foot, which is an infrequent association.