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Preaxial polydactyly in an infant with Down’s syndrome

Preaxial polydactyly in an infant with Down’s syndrome To the Editor: Although Down’s 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 fissures, flat nasal bridge, low-set ears, a single transverse palmar crease in the right hand, bilateral fifth finger clinodactyly and bilateral wide gaps between the first 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 confirmed that the distal and proximal phalanges of the left thumb were duplicated, although only a single first metacarpal was present. The right thumb was clinically and radiologically normal. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Preaxial polydactyly in an infant with Down’s syndrome

Clinical Genetics , Volume 55 (2) – Feb 1, 1999

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Publisher
Wiley
Copyright
Munksgaard 1998
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1034/j.1399-0004.1999.550212.x
Publisher site
See Article on Publisher Site

Abstract

To the Editor: Although Down’s 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 fissures, flat nasal bridge, low-set ears, a single transverse palmar crease in the right hand, bilateral fifth finger clinodactyly and bilateral wide gaps between the first 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 confirmed that the distal and proximal phalanges of the left thumb were duplicated, although only a single first metacarpal was present. The right thumb was clinically and radiologically normal.

Journal

Clinical GeneticsWiley

Published: Feb 1, 1999

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