Familial short fifth metacarpals and insulin resistance
- 1. National Center for Diabetes, Endocrinology and Genetics, P.O. Box 13165, Amman (Jordan)
- 2. Jordan University Hospital, Department of Radiology, Amman (Jordan)
Description
Very few reports on the phenotype of short fifth metacarpals have been published in the medical literature. We report a Jordanian family in which three sisters aged 15, 13 and 8 years revealed bilateral shortening of the fifth fingers and radiological shortening of the fifth metacarpals. The father had unilateral short fifth metacarpal. The elder two sisters, their father as well as their brother and another sister manifested insulin resistance. Spherocytosis was diagnosed in one of the girls and her father. The parents are non-consanguineous. This constellation of findings has not been previously reported and could point to the presence of two disorders segregating in the family or to a novel syndrome with autosomal dominant inheritance and variable expressivity. (orig.)
Availability note (English)
Available from: http://dx.doi.org/10.1007/s00256-005-0939-2Additional details
Identifiers
Publishing Information
- Journal Title
- Skeletal Radiology
- Journal Volume
- 35
- Journal Issue
- 9
- Journal Page Range
- p. 702-705
- ISSN
- 0364-2348
- CODEN
- SKRADI
INIS
- Country of Publication
- Germany
- Country of Input or Organization
- Germany
- INIS RN
- 37105510
- Subject category
- S62: RADIOLOGY AND NUCLEAR MEDICINE;
- Descriptors DEI
- BIOMEDICAL RADIOGRAPHY; DIAGNOSIS; HANDS; PATHOLOGICAL CHANGES; PATHOLOGY
- Descriptors DEC
- ARMS; BODY; DIAGNOSTIC TECHNIQUES; LIMBS; MEDICINE; NUCLEAR MEDICINE; RADIOLOGY