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.
Assuntos
Anormalidades Múltiplas , Criança , Fissura Palatina , Seguimentos , Perda Auditiva Condutiva , Humanos , Cifose , Masculino , Micrognatismo , Equipe de Assistência ao Paciente , Costelas/anormalidades , Escoliose , SíndromeRESUMO
In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 and type 2, it is important to establish a correct diagnosis in these patients. A case of type II oro-facio-digital syndrome is being reported and the distinguishing clinicoradiological features with type I are compared.
Assuntos
Criança , Feminino , Humanos , Síndromes Orofaciodigitais/diagnósticoRESUMO
A common and conspicuous congenital hand anomaly, polydactyly commonly involves only the hand or the foot. Polydactyly involving both hands and feet is rare. We herewith report two cases of Crossed Polydactyly (Type I) and review the literature.
Assuntos
Criança , Feminino , Dedos/anormalidades , Humanos , Recém-Nascido , Masculino , Polidactilia , Dedos do Pé/anormalidadesRESUMO
A case of severe ankylosing spondylitis involving the entire spine was to be operated for lumbar osteotomy. She had fixed rigidity of the cervical spine with minimal rotational movement, inability to lie down supine and severe restrictive lung disease with hypoxemia (pO2 = 65 mmHg). An awake intubation was performed and the patient was operated under general anaesthesia in the prone position. Intraoperative "wake-up" test was performed to judge whether extent of straightening was excessive. Postoperatively, she was electively ventilated and extubated uneventfully after 24 hours.