A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation
AUTOR(ES)
Gupta, Ajay
RESUMO
We describe a girl of Pakistani origin, born to consanguineous parents, with a multiple congenital anomaly (MCA) syndrome. This is the second report confirming an apparently new autosomal recessive syndrome reported earlier by van den Ende et al in 1992. The hallmarks of this MCA syndrome include characteristic facies with blepharophimosis, narrow, beaked nose, hypoplastic maxilla with or without cleft palate and everted lower lip, arachnodactyly, self-limiting congenital joint contractures, peculiar skeletal abnormalities, and normal growth and development. Further clinical and radiological delineation of the syndrome in this report suggests that the term “Marden-Walker-like syndrome without psychomotor retardation”, used in the first report to describe this condition, does not accurately reflect its clinical picture. The overall prognosis in this syndrome seems good.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051707Documentos Relacionados
- A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
- Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.
- Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome.
- Unknown syndrome: pachygyria, joint contractures, and facial abnormalities.
- Night blindness, characteristic facies, and skeletal abnormalities in two brothers.