Kyphomelic Dysplasia: Clinical and Radiologic Long-term Follow-up of One Case and Review of the Literature

Abstract

The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with kyphomelic dysplasia so far described in the literature, with assessment of the phenotypic, orthopedic, and radiologic progression of this syndrome.

Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia

“…There is a male preponderance in affected infants with kyphomelic dysplasia in the literature. However, apart from the present report, females with this disorder have been described [9–11]. There are many reports of recurrence in siblings in the literature favoring autosomal recessive inheritance [2,10–13].…”

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

“…Twenty-one cases have been reported in the literature. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] However the diagnosis in several cases from the literature has been disputed. The case described by Maclean and co-workers 10 was reported recently to have Schwartz-Jampel syndrome, 15 and the family reported by Toledo et al 5 in fact had osteogenesis imperfecta.…”

Congenital Bowing of Long Bones: Prenatal Ultrasound Findings and Diagnostic Dilemmas

“…However, since the first description, more than 20 cases have been reported. The radiological anomalies of all the cases reported in the literature appear to be concordant and therefore constitute specific markers that strongly suggest the diagnosis [6]. The main features are rhizomelic-mesomelic shortening of the limbs, with short and angulated femora, variable involvement of other long bones, and irregular and flared metaphyses.…”

“…There is a tendency for radiological abnormalities to improve with age, although the affected individuals remain short. Only a single patient has been followed up to adulthood to date [6]. Immunodeficiency, which sometimes occurs in skeletal dysplasia and cartilage-hair hypoplasia, may also exist and seems to be the sole bad prognostic factor in affected subjects.…”

“…Campomelic dysplasia (CD) and Stüve-Wiedemann syndrome (SWS) are characterized by a poor prognosis and early lethality [2][3][4]. Conversely, the overall prognosis of children affected with kyphomelic dysplasia (KD) is good, the intelligence and motor development are normal and radiological abnormalities tend to improve and regress with age [5,6]. Each of these three syndromes is characterized by specific clinical and radiological findings and the diagnosis at birth is rather easy.…”