A new case of hairy elbows syndrome (hypertrichosis cubiti).
Hairy Elbows Syndrome (Hypertrichosis Cubiti; OMIM# 139600) is a rare syndrome, and characterized by the presence of long vellus hair localized on the extensor surfaces of the distal third of the arms and proximal third of the forearm bilaterally. Occasionally hypertrichosis of other body regions may accompany hairy elbows. About half of the reported patients have short stature. Aside from short stature other relatively rare abnormalities related with this syndrome were also described. Most of the reported cases were sporadic, but autosomal dominant as well as autosomal recessive inheritance patterns have also been postulated. In this report, we present a girl with Hairy Elbows syndrome who has both characteristic and uncommon findings of the syndrome. She has excessive hair on her elbows, along with short stature, microcephaly, joint hyperlaxity, thin-long-webbed neck, dysmorphic facial features and mental retardation.
Koç
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A
Department of Medical Genetics, School of Medicine, Gazi University, Turkey.
Karaer
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K
Ergün
M A
MA
Cinaz
P
P
Perçin
E F
EF
D000328:Adult; D000365:Age Determination by Skeleton; D002648:Child; D003241:Consanguinity; D004550:Elbow; D005260:Female; D005787:Gene Frequency; D006801:Humans; D006983:Hypertrichosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D014421:Turkey