Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia

Prasad, Chitra; Cramer, BC; Pushpanathan, Chitra; Crowley, MC; Ives, E. J.

doi:10.1034/j.1399-0004.2000.580510.x

Cited by 15 publications

(14 citation statements)

References 27 publications

(22 reference statements)

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“…Also unlikely are unique syndromes (e.g., Conway, 1958; Bain and Barret, 1959; Dunn and Aponte, 1962; Rath and Thalhammer, 1967; Stüve and Wiedman, 1971; Mahloudji et al, 1974; Eliachar et al, 1975; Stevenson, 1982; Maclean et al, 1983; Burton et al, 1986), in which shortening and bowing of the femora are associated with other deformities. Recent attempts to better delineate some of those conditions (Prasad et al, 2000; Spranger et al, 2000) reemphasized the symptomatic nature of a variety of cases exhibiting bowing of the long bones. Many of those cases were grouped under the general title of “congenital bowing of long bones” (CBLB), meant as nonspecific manifestations of a great number of conditions (Kozlowsky et al, 1978; Hall and Spranger, 1980).…”

Section: Differential Diagnosismentioning

confidence: 99%

Double child burial from sunghir (Russia): Pathology and inferences for upper paleolithic funerary practices

Formicola

Бужилова

2003

American J Phys Anthropol

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The double child burial from Sunghir (Russia) is a spectacular Mid Upper Palaeolithic funerary example dated to about 24,000 BP. A boy (Sunghir 2) and a girl (Sunghir 3), about 12-13 and 9-10 years old, respectively, were buried at the same time, head to head, covered by red ocher and ornamented with extraordinarily rich grave goods. Examination of the two skeletons reveals that the Sunghir 3 femora are short and exhibit marked antero-posterior bowing. The two femora do not show any asymmetry in the degree of shortening and bowing. Bowing affects the whole diaphysis and shows a regularly incurved profile, with the highest point at midshaft. Pathology is confined to the femora, and no other part of this well-preserved specimen shows abnormality. The isolated nature of the Sunghir 3 anomalies points to cases reported in the medical literature under the label of "congenital bowing of long bones" (CBLB). These are a group of rare conditions exhibiting localized, sometimes bilateral, bowing and shortening which are nonspecific and may result from different causes, including abnormalities of the primary cartilaginous anlage (i.e., the aggregation of cells representing the first trace of an organ). Localized ossification disturbances, possibly linked to a diabetic maternal condition, might explain the shortening and the coincidence of maximum midshaft curvature with the position of the primary ossification center, as well as the lack of involvement of other skeletal parts. This scenario, rather than other possibilities (early bilateral midshaft fracture, acute plastic bowing deformities, or faulty fetal posture), provides the most likely explanation for the Sunghir 3 femoral deformities. The intriguing combination of a pathological condition apparent since birth with a spectacular burial of unusually positioned young individuals of different sexes recalls significant aspects of the triple burial from the contemporary site of Dolní Vestonice (Moravia), evoking a patterned relationship between physical abnormality and extraordinary Upper Paleolithic funerary behavior.

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Section: Differential Diagnosismentioning

confidence: 99%

Double child burial from sunghir (Russia): Pathology and inferences for upper paleolithic funerary practices

Formicola

Бужилова

2003

American J Phys Anthropol

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“…KD is quite similar to other forms of MCD in that it exhibits combined immune deficiency and aplastic anemia. Femoral bowing is a hallmark of KD [23]. Novel mutations were found in the RMRP gene of a patient with KD, including an insertion of T at 194_195 (paternal allele) and a 63C→ T point mutation on the maternal allele.…”

Section: Mdwh (Omim #250460) Is a Disorder In Which Thementioning

confidence: 99%

RNase MRP RNA and human genetic diseases

Martin

2006

Cell Res

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“…Although it is difficult to infer solid prognostic factors from small numbers, we observed that severe early involvement of long bones (Cases 1 and 2) and early onset of severe oligohydramnios (Case 8) could suggest poor outcome in SWS. Despite the occasional lethal neonatal problems, kyphomelic dysplasia, FH‐UFS and diastrophic dysplasia are compatible with a probably normal life expectancy29–32. The prognosis of Cumming and Antley–Bixler syndromes will depend on the associated anomalies33, 34.…”

Section: Discussionmentioning

confidence: 99%