To the Editor: Although Downâs syndrome (DS) is associated with distal limb abnormalities, these are not generally thought to include polydactyly. Here we report a female infant with DS and striking unilateral preaxial polydactyly (PPD). The fourth child of healthy, unrelated Bangladeshi parents, she had no family history of polydactyly or other congenital malformations. Although her mother was aged 45, her parents had declined routine antenatal screening for DS. Following an uncomplicated pregnancy, she was born by normal vaginal delivery at 42 weeks gestation. Birth weight (2.6 kg) and head circumference (29.8 cm) were both below the third percentile. Typical features of DS were noted, including hypotonia, brachycephaly, upslanting palpebral ï¬ssures, ï¬at nasal bridge, low-set ears, a single transverse palmar crease in the right hand, bilateral ï¬fth ï¬nger clinodactyly and bilateral wide gaps between the ï¬rst and second toes. Echocardiography showed a restrictive ventricular septal defect. In addition, there was unilateral PPD. An extra biphalangeal thumb, complete with thumbnail, was present in the left hand (Fig. 1). Radiological examination conï¬rmed that the distal and proximal phalanges of the left thumb were duplicated, although only a single ï¬rst metacarpal was present. The right thumb was clinically and radiologically normal.
Clinical Genetics – Wiley
Published: Feb 1, 1999
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