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Acromelic frontonasal dysostosis.
Slaney, S F; Goodman, F R; Eilers-Walsman, B L; Hall, B D; Williams, D K; Young, I D; Hayward, R D; Jones, B M; Christianson, A L; Winter, R M.
Afiliación
  • Slaney SF; Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK. s.slaney@ubht.swest.nhs.uk
Am J Med Genet ; 83(2): 109-16, 1999 Mar 12.
Article en En | MEDLINE | ID: mdl-10190481
ABSTRACT
We report on 3 male and 2 female infants with acromelic frontonasal dysostosis. All 5 had a frontonasal malformation of the face and nasal clefting associated with striking symmetrical preaxial polysyndactyly of the feet and variable tibial hypoplasia. In contrast, the upper limbs were normal. This rare variant of frontonasal dysplasia may represent a distinct autosomal-recessive disorder. We suggest that the molecular basis of this condition may be a perturbation of the Sonic Hedgehog (SHH) signalling pathway, which plays an important part in the development of the midline central nervous system/craniofacial region and the limbs.
Asunto(s)
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Nariz / Deformidades Congénitas de las Extremidades / Disostosis Craneofacial Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet Año: 1999 Tipo del documento: Article País de afiliación: Reino Unido
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Nariz / Deformidades Congénitas de las Extremidades / Disostosis Craneofacial Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet Año: 1999 Tipo del documento: Article País de afiliación: Reino Unido