Assuntos
Anormalidades Múltiplas/diagnóstico , Criança , Nanismo/diagnóstico , Face/anormalidades , Feminino , Humanos , Hipogonadismo , SíndromeRESUMO
The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.
Assuntos
Anormalidades Múltiplas/genética , Contratura/genética , Craniossinostoses/genética , Humanos , Lactente , Masculino , Síndrome de Marfan/genética , Síndrome , Sinostose/genéticaRESUMO
Cerebro-costo-mandibular syndrome (CCMS) is a rare multiple congenital anomaly with a low survival rate. There are few reports of long-term survival in this condition. We describe the findings and management of a 9-year-old survivor of CCMS, outline the importance of early intervention and multidisciplinary team approach. The child presented in the neonatal period in respiratory distress with classical features of the syndrome. Aggressive initial respiratory management was later followed up with an integrated multidisciplinary team approach. He has been carefully followed up for nine years now, illustrating well, the course of the syndrome.