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Pfeiffer type acrocephalosyndactyly with hydrocephalus and tracheomalacia
KMJ-Kuwait Medical Journal. 2005; 37 (3): 194-196
em Inglês | IMEMR | ID: emr-73010
ABSTRACT
Pfeiffer syndrome is a rare form of acrocephalosyndactyly It is characterized by craniosynostosis involving one or more sutures resulting in abnormal skull shape and facial dysmorphism. Broad medially deviated distal phalanges of thumbs and big toes with soft tissue syndactyly are typical. Various multisystem anomalies have been reported as infrequent associations of this syndrome. A case of an infant with the typical features along with the uncommon associations of hydrocephalus and tracheomalacia is reported. The literature is briefly reviewed for clinical features, classification, genetic basis and management
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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Síndrome / Traqueia / Acrocefalossindactilia / Cefalometria / Hidrocefalia Tipo de estudo: Relato de Casos Limite: Humanos / Masculino Idioma: Inglês Revista: Kuwait Med. J. Ano de publicação: 2005

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Índice: IMEMR (Mediterrâneo Oriental) Assunto principal: Síndrome / Traqueia / Acrocefalossindactilia / Cefalometria / Hidrocefalia Tipo de estudo: Relato de Casos Limite: Humanos / Masculino Idioma: Inglês Revista: Kuwait Med. J. Ano de publicação: 2005