Cartilage hair hypoplasia.

Boothby, C B; Bower, B.

doi:10.1136/adc.48.11.918

Cited by 9 publications

(5 citation statements)

References 8 publications

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“…Indeed, for isolated cases unassociated with other congenital anomalies and/ or developmental delay, the latest evidence based on complex segregation analysis on a large number of probands and their families ) points to different modes of inheritance according to the extent of the aganglionosis: for cases extending beyond the sigmold colon, the analysed data indicate one or several dominant genes with incomplete penetrance, whereas for cases not extending farther than the sigmoid colon, either a multifactorial mode of inheritance or one caused by a recessive gene with very low penetrance seems equally likely. Moreover, HD is also known to occur in dominantly inherited conditions, such as the Waardenburg syndrome (Branski et al 1979;Ommen and McKusick 1979;, and in a number of recessive disorders including the cartilage-hair hypoplasia syndrome (McKusick et al 1965;Boothby and Bower 1973) and the Smith-Lemli-Opitz syndrome type II (Patterson et al 1983;Le Merrer et al 1988). Chromosome aberrations, trisomy 21 being an exception (Passarge 1967;Garver et al 1985;Spouge and Baird 1985), have very rarely been associated with HD: to the best of our knowledge, they have been reported only in single cases involving chromosome 2 (de novo deletion 2p22, Webb et al 1988), chromosomes 2 and 10 (partial trisomy 2p and partial monosomy 10q, Larson et al 1982), chromosome 4 (partial trisomy 4q, Issa et al 1976), chromosome 7 (terminal deletion 7q, Baumann et al 1980), chromosome 8 (partial trisomy 8qter, Fryns et al 1974;mosaic trisomy 8, Frangoulis and Taylor 1983), chromosomes 11 and 22 (partial trisomy 11q23 and 22q11, Beedgen et al 1986) and chromosome 17 (partial trisomy 17q, Gallien et al 1981).…”

Section: Discussionmentioning

confidence: 97%

A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus

et al. 1991

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A mentally retarded boy with discrete physical findings, Hirschsprung disease (HD) and a microdeletion of 13q,del(13)(q32.3q33.2) is described. Band 13q33.1 was consistently missing in all cells. There have been, to date, 4 published cases of deletions involving the long arm of chromosome 13 associated with HD: the interstitial deletion reported here is much smaller than, and it partially overlaps with, the previously reported deletions; it could be helpful for mapping one of the genes involved in this disease.

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Section: Discussionmentioning

confidence: 97%

A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus

et al. 1991

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“…Several CHH patients with Hirschsprung disease have been reported thereafter [1,5,7,13,14,28,32,401. Our series included eight patients with aganglionic megacolon.…”

Section: Discussionmentioning

confidence: 98%

Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients

1993

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Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic hair, and defective immunity and erythrogenesis. We have analysed the clinical outcome of 108 Finnish patients. Birth length was below -2.0 SD in 70% of the patients; the adult heights ranged from -11.4 SD to -5.2 SD. The sitting height percentage was increased in all but 4 patients. Six patients had normal hair. Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and scoliosis in 21% of the patients. Defective cellular immunity had been observed in 88% and increased susceptibility to infections in 56% of the patients. Six patients had died of primary infections. The incidence of malignancies was 6%. Childhood anaemia had occurred in 79% of the patients. It was usually mild, but severe in 14 patients. Hirschsprung disease had been observed in 8, anal stenosis in 1 and oesophageal atresia in 1 patient. The intrafamilial variation of the syndrome was considerable as studied in 16 sibships.

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“…Mutations in RMRP that reduce rRNA (rRNA) cleavage are associated with the bone dysplasia characteristic of Cartilage Hair Hypoplasia, while in contrast, mutations in RMRP that affect mRNA (mRNA) cleavage are associated with hair hypoplasia, immunodeficiency, and dermatologic abnormalities typical of Anauxetic Dysplasia. 49 Therefore, the observed clinical differences and variabilities may be explained by the types of alterations in gene function, together with the magnitude of their effect on ribosome biogenesis in specific tissues at specific developmental times.…”

Section: Future Approaches and Anticipated Outcomesmentioning

confidence: 99%

Ribosomopathies: Global process, tissue specific defects

2015

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Disruptions in ribosomal biogenesis would be expected to have global and in fact lethal effects on a developing organism. However, mutations in ribosomal protein genes have been shown in to exhibit tissue specific defects. This seemingly contradictory finding - that globally expressed genes thought to play fundamental housekeeping functions can in fact exhibit tissue and cell type specific functions ‐ provides new insight into roles for ribosomes, the protein translational machinery of the cell, in regulating normal development and disease. Furthermore it illustrates the surprisingly dynamic nature of processes regulating cell type specific protein translation. In this review, we discuss our current knowledge of a variety of ribosomal protein mutations associated with human disease, and models to better understand the molecular mechanisms associated with each. We use specific examples to emphasize both the similarities and differences between the effects of various human ribosomal protein mutations. Finally, we discuss areas of future study that are needed to further our understanding of the role of ribosome biogenesis in normal development, and possible approaches that can be used to treat debilitating ribosomopathy diseases.

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Cartilage hair hypoplasia.

Cited by 9 publications

References 8 publications

A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus

A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus

Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients

Ribosomopathies: Global process, tissue specific defects

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