Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities
Egyptian Journal of Medical Human Genetics [The]. 2013; 14 (1): 109-112
em Inglês
| IMEMR
| ID: emr-150729
ABSTRACT
We report a 4 month old female infant with the typical features of Cornelia-de Lange syndrome. What was striking in our patient was the presence of skeletal anomalies not reported previously. These included arachriodactly of both fingers and toes, flexion of thumbs at metacarpoph alengeal joints, bilateral short big toes, angulation of the lower part of the bones of right forearm and both legs with multiple skin folds. Also biochemical and X-ray evidence of rickets was detected mostly due to malnutrition and failure to thrive. The patient died at the age of 5 months with bron chopneumonia and gastroenteritis
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Osso e Ossos
/
Imageamento por Ressonância Magnética
/
Lactente
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Egypt. J. Med. Hum. Genet.
Ano de publicação:
2013
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