Clinical and radiological findings in Pallister-Killian syndrome.


Autoria(s): Jamuar S.; Lai A.; Unger S.; Nishimura G.
Data(s)

2012

Resumo

Pallister-Killian syndrome (PKS) is a potentially lethal disorder with facial dysmorphism, pigmentary skin anomalies, developmental delay and major visceral anomalies, such as diaphragmatic hernia, anorectal malformation, and congenital heart disease. PKS is causally associated with mosaic tetrasomy of chromosome 12p. A routine chromosome analysis in peripheral lymphocytes usually fails to detect the mosaic state. A prompt diagnosis rests on clinical awareness and a subsequent chromosome or molecular analysis in fibroblasts, buccal mucosal cells, or bone marrow cells. We report here on three infants with PKS. One infant had aortic dilatation, a previously unreported association in PKS. More importantly, all infants showed a recognizable, though mild, pattern of skeletal changes mainly affecting axial bones, including delayed ossification of the vertebral bodies and pubic bones, flared anterior ribs, and broad metaphyses of the long bones, particularly of the femora. These skeletal changes should be considered as a useful diagnostic sign in PKS. Awareness of the axial skeletal alterations can be helpful in prompting clinicians to search for mosaic tetrasomy 12p and perform chromosomal analysis in appropriate tissue types.

Identificador

http://serval.unil.ch/?id=serval:BIB_EB71048AA46F

isbn:1878-0849 (Electronic)

pmid:22387057

doi:10.1016/j.ejmg.2012.01.019

isiid:000307539500003

Idioma(s)

en

Fonte

European Journal of Medical Genetics, vol. 55, no. 3, pp. 167-172

Palavras-Chave #Bone and Bones/abnormalities; Bone and Bones/radiography; Chromosome Disorders/diagnosis; Chromosome Disorders/radiography; Chromosomes, Human, Pair 12/radiography; Humans; Infant; Infant, Newborn; Male
Tipo

info:eu-repo/semantics/article

article