RESUMO
We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple-like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown.
Assuntos
Catarata/diagnóstico , Disostoses/diagnóstico , Microcefalia/diagnóstico , Anormalidades Múltiplas , Adulto , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Bandeamento Cromossômico , Variações do Número de Cópias de DNA , Genômica , Humanos , Imageamento Tridimensional , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Síndrome , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: Klippel-Feil syndrome is characterized by faulty segmentation of two or more cervical vertebrae and, in its most severe form, consists of massive cervical vertebral fusion, short neck, low posterior hairline, and limitation of head movement. Several cases associating Klippel-Feil syndrome with situs inversus totalis have been reported. In the present study, we describe the clinical features of a novel case of Klippel-Feil syndrome associated with situs inversus totalis and searched for mutations in GDF1, GDF3 and GDF6 genes, which were recently implicated in the development of skeletal and visceral anomalies. METHODS: A case of Klippel-Feil syndrome associated with situs inversus totalis underwent a full clinical examination including X-ray of cervical spine and thorax, abdominal ultrasound, and computerized tomography scanning of thorax and abdomen. PCR amplification and automated nucleotide sequencing of coding exons and intron-exon junctions of GDF1, GDF3, and GDF6 genes were performed in genomic DNA. RESULTS: No molecular alterations were found in GDF1, GDF3 and GDF6 genes in this patient. CONCLUSION: An additional patient associating Klippel-Feil syndrome and situs inversus totalis is reported. Mutations in GDF1, GDF3, and GDF6 genes were excluded as the cause of this unusual clinical association.
Assuntos
Fator 1 de Diferenciação de Crescimento/genética , Fator 3 de Diferenciação de Crescimento/genética , Fator 6 de Diferenciação de Crescimento/genética , Síndrome de Klippel-Feil/diagnóstico por imagem , Situs Inversus/diagnóstico por imagem , Adulto , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética , Humanos , Síndrome de Klippel-Feil/genética , Radiografia , Situs Inversus/genéticaRESUMO
Fetal ovarian cyst is uncommon; it represents the second place of fetal abdominal tumors, after urinary tract tumors. The cause of fetal ovarian cysts still remains unclear, although it is likely to be promoted by hormones. Its prognosis is usually good. Differential diagnosis should rule out urinary tract malformations. A case of a female newborn with giant fetal ovarian cyst, diagnosed on week 37 of the pregnancy period, treated with exploratory laparotomy and cyst exeresis, with serum cystadenoma histopathology diagnosis is presented.
Assuntos
Cistadenoma Seroso/embriologia , Neoplasias Ovarianas/embriologia , Ultrassonografia Pré-Natal , Adulto , Cesárea , Cistadenoma Seroso/diagnóstico por imagem , Cistadenoma Seroso/cirurgia , Feminino , Humanos , Recém-Nascido , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias Ovarianas/cirurgia , GravidezRESUMO
The arachnoid cysts are intracranial liquid collections with a congenital etiology. It is necessary to establish the absence of bibliographical information about this disease and its relation with pregnancy. A case is presented related to the treatment of a nineteen year old pregnant patient with a 31 week pregnancy and a history of arachnoid cysts with convulsions as the main symptom.
