RESUMO
A case of lacunar skull, female newborn infant, associated with skin defect on the lumbosacral region, spina bifida, meingomyelocele and paraplegia is reported. Hydrocephalus developed eventually. Diagnosis was made by X-ray of skull. The roentgenographic apperance shows typhical a soap bubble texture or irregular patches of rarefaction. A brief review of the related literature is given.
Assuntos
Feminino , Humanos , Recém-Nascido , Diagnóstico , Hidrocefalia , Região Lombossacral , Paraplegia , Pele , Crânio , Sabões , Disrafismo EspinalRESUMO
A case of lacunar skull, female newborn infant, associated with skin defect on the lumbosacral region, spina bifida, meingomyelocele and paraplegia is reported. Hydrocephalus developed eventually. Diagnosis was made by X-ray of skull. The roentgenographic apperance shows typhical a soap bubble texture or irregular patches of rarefaction. A brief review of the related literature is given.
Assuntos
Feminino , Humanos , Recém-Nascido , Diagnóstico , Hidrocefalia , Região Lombossacral , Paraplegia , Pele , Crânio , Sabões , Disrafismo EspinalRESUMO
Acute hydrops of the gallbladder is described in one patient who had mucocutaneous lymph node syndrome. During the course of her illness, acute addominal pain, vomiting and right upper guadrant tenderness were developed. Diagnosis was readily made with ultrasonography, and the patient was followed with this te-chnique. We managed her conventionally without surgical intervention. The galbladder returned to normal size within about 3 weeks. Related literatures are briefly reviewed.
Assuntos
Humanos , Diagnóstico , Edema , Vesícula Biliar , Síndrome de Linfonodos Mucocutâneos , Ultrassonografia , VômitoRESUMO
The Cornelia de Lange syndrome is characterized by severe growth and mental retardations and a cluster of minor malformations, the facial appearance being most characteristic. In the present paper, we shall report I case of this syndrome in Korean male infant and the variability of de Lange syndrome is discussed. The bady showed hirsutism, low forehead coved with lanugo-like hair, bushy eyebrows that meet in the midline, long curely eyelashes as well as low pitched, growling cry and skeletal abnormalities of hand bones. There is no positive family history and the karyotype was normal. Although the de Lange syndrome has received more interest there is no agreement as to the possible cause.
Assuntos
Humanos , Lactente , Masculino , Síndrome de Cornélia de Lange , Sobrancelhas , Pestanas , Testa , Cabelo , Ossos da Mão , Hirsutismo , CariótipoRESUMO
A case of a achondroplasia in a 6 month-old-boy was presented with a brief review of the literature. He was admitted with the chief complaints of frequent respiratory infections, and stunted growth. This baby showed stunted growth, short arms and legs, prominent forehead, flatening of the bridge of the nose, and moderate degree of kyphosis. All laboratory datas were nomal. X-ray showed the thickness of the bones and their irregular epiphyseal ends. The pelvis squared, with flat acetabula and distally decreasing interpedunculate distance of the lumbar vertebrae. 14 month follow up study makes it possible to diagnosis as achodroplsia.
