PubMed · 16432703
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Marco Castori, Francesco Brancati, Alessandro Castriota Scanderbeg, Bruno Dallapiccola. 2006-01-24. Hypochondrogenesis.. https://doi.org/10.1007/s00247-005-0068-z
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We report on two brothers, born to double first cousin Jordanian Arab parents, with a syndrome comprising severe hypertelorism with upslanted palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Both have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. Results of chromosome analysis were normal as was a FISH assay for subtelomeric rearrangements. The father has mild hypertelorism but the family history is otherwise unremarkable. We think that this represents a previously unrecognized autosomal or X-linked recessive syndrome.
We report on a case of short stature with facial dysmorphism, ulnar deviation of hands and joint contractures. The X-rays of hands showed dislocation of the distal end of the radius and growth of the radius over the head of the ulna with total absence of carpal bones and hypoplastic tarsal bones. This is first report of such an association.
OBJECTIVE: To evaluate the efficacy of MRI in classifying PFFD and to compare MRI to radiographic classification of PFFD. DESIGN: Radiographic and MRI classification of the cases was performed utilizing the Amstutz classification system. PATIENTS: Retrospective evaluation of radiographs and MRI exams in nine hips of eight patients with proximal focal femoral deficiency was performed by two radiologists. RESULTS: The cases were classified by radiographs as Amstutz 1: n=3, Amstutz 3: n=3, Amstutz 4: n=1 and Amstutz 5: n=2. The classifications based on MRI were Amstutz 1: n=6, Amstutz 2: n=1, Amstutz 3: n=0, Amstutz 4: n=2 and Amstutz 5: n=0. Three hips demonstrated complete agreement. There were six discordant hips. In two of the discordant cases, follow-up radiographs of 6 months or greater intervals were available and helped to confirm MRI findings. Errors in radiographic evaluation consisted of overestimating the degree of deficiency. CONCLUSION: MRI is more accurate than radiographic evaluation for the classification of PFFD, particularly early on, prior to the ossification of cartilaginous components in the femurs. Since radiographic evaluation tends to overestimate the degree of deficiency, MRI is a more definitive modality for evaluation of PFFD.