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Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern.
Ann Genet. 1999; 42(3):170-3.AG

Abstract

Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by shortening and bowing of the limbs, skin dimples, abnormalities of methaphysis and ribs, a short trunk, a narrow thorax, neonatal respiratory distress, platyspondyly, and facial dysceptism with micrognathia, midfacial hypoplasia, and a broad nasal bridge. Some children die in early infancy. The survivors show normal hands, feet, cranium and psychomotor development. The condition varies in severity. The facial features and bowing improve during childhood, and stature remains short during adulthood. We report here a family with KD inherited as an autosomal dominant trait, which appears to be less severe than the autosomal recessive form, without facial and vertebral a favorable outcome and with involvement and final short stature.

Authors+Show Affiliations

Unitad de Investigación, Hospital Ntra Sra de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10526661

Citation

Toledo, C, et al. "Kyphomelic Dysplasia: a Report of a Family With an Autosomal Dominant Pattern." Annales De Genetique, vol. 42, no. 3, 1999, pp. 170-3.
Toledo C, Navarro-Barros R, Alba L, et al. Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern. Ann Genet. 1999;42(3):170-3.
Toledo, C., Navarro-Barros, R., Alba, L., & Muñoz, E. (1999). Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern. Annales De Genetique, 42(3), 170-3.
Toledo C, et al. Kyphomelic Dysplasia: a Report of a Family With an Autosomal Dominant Pattern. Ann Genet. 1999;42(3):170-3. PubMed PMID: 10526661.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern. AU - Toledo,C, AU - Navarro-Barros,R, AU - Alba,L, AU - Muñoz,E, PY - 1999/10/20/pubmed PY - 1999/10/20/medline PY - 1999/10/20/entrez SP - 170 EP - 3 JF - Annales de genetique JO - Ann. Genet. VL - 42 IS - 3 N2 - Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by shortening and bowing of the limbs, skin dimples, abnormalities of methaphysis and ribs, a short trunk, a narrow thorax, neonatal respiratory distress, platyspondyly, and facial dysceptism with micrognathia, midfacial hypoplasia, and a broad nasal bridge. Some children die in early infancy. The survivors show normal hands, feet, cranium and psychomotor development. The condition varies in severity. The facial features and bowing improve during childhood, and stature remains short during adulthood. We report here a family with KD inherited as an autosomal dominant trait, which appears to be less severe than the autosomal recessive form, without facial and vertebral a favorable outcome and with involvement and final short stature. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/10526661/Kyphomelic_dysplasia:_a_report_of_a_family_with_an_autosomal_dominant_pattern_ L2 - http://www.diseaseinfosearch.org/result/4057 DB - PRIME DP - Unbound Medicine ER -