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
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.
All for just $49/month
Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly
Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.
Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.
Read from thousands of the leading scholarly journals from SpringerNature, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera