Abstracts Posters SICOT-SOF meeting Gothenburg 2010 _2_

Poster
Topic: Paediatrics
Abstract number: 23834
ORTHOPAEDIC FEATURES OF PENTASOMY X SYNDROME
Steven BORLAND 1 , Shyan SWARNA 2 , Satish BALASUBRAMANIAN 2 , Michael
MASSAM 2 , Hans FUCHS 2
1 Birmingham Childrens Hospital, Birmingham (UNITED KINGDOM), 2 South Tyneside
Hospital, South Shields (UNITED KINGDOM)
Background - Pentasomy X is a very rare genetic abnormality, where a female child
has 5 X chromosomes to every cell. Few cases have been reported. Children can
present with certain orthopaedic abnormalities, which may or may not be present in
every case. We discuss the findings in one patient with this condition. Results - We
discuss the case of a 5 year old child. Her phenotype was described as micrognathia,
hypertelorism and epicanthic folds with upward slanting eyes. She had clinodactyly, a
simian crease of the left hand and overlap of the fifth toes. Chromosomal analysis
showed a genotype 49 XXXXX, confirming pentasomy X. She presented to our clinic
with instability of both elbows and difficulty with pronation and supination of both
forearms. Clinical examination showed full range of flexion and extension of the
elbow, but that the forearms were both held in 45 degrees pronation with little
movement. X rays of both elbows confirmed synostoses of the proximal radius and
ulna with an absence of the radial head. In addition we found her to have clinodactyly
of the little finger of the left hand. This did not seem to be limiting her function or
grasping ability. Conclusions - Pentasomy X is an extremely rare genetic abnormality,
with only a few cases described worldwide. Orthopaedic findings may include radioulnar
synostosis, clinodactyly and toe abnormalities.
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