RESUMO
BACKGROUND: Disruptive amniotic band sequence (DABS) is a sporadic, non-familial disorder with unclear etiology. Diagnosis is based on clinical features because there is currently no reliable laboratory diagnostic tests. OBJECTIVE: We describe six cases of DABS with severe craniofacial deformations, three with and three without classical constrictive limb deformation. RESULTS: The craniofacial deformities were delimited by peripheral sharply demarcated scarring. CONCLUSION: When a sharply demarcated linear disruptive craniofacial lesion is observed, DABS should be considered despite the absence of constrictive limb scarring.
Assuntos
Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/patologia , Anormalidades Craniofaciais/etiologia , Anormalidades Craniofaciais/patologia , Feminino , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
We report the fifth female patient with Myhre syndrome (MS) and review the literature. She is a 13-year-old Mexican girl whose phenotype fulfills all the clinical and radiological criteria reported in MS such as typical facies, short stature, limited joint mobility, and short hands and feet. The physical habitus of MS is described and a square body shape is clearly distinguished in all cases. As the typical muscular build is present mainly in male patients, the MS muscular appearance may be hormonally influenced.
Assuntos
Anormalidades Múltiplas/patologia , Osso e Ossos/anormalidades , Anormalidades Craniofaciais/patologia , Fácies , Deformidades Congênitas dos Membros/patologia , Anormalidades Múltiplas/diagnóstico por imagem , Adolescente , Tamanho Corporal , Osso e Ossos/diagnóstico por imagem , Anormalidades Craniofaciais/diagnóstico por imagem , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico por imagem , Puberdade Precoce/diagnóstico , Radiografia , SíndromeRESUMO
A 25-year-old woman with a mosaic 45,X/47XX,+14 karyotype is reported. She presented with short stature, short downward slanting palpebral fissures, broad nasal bridge, mouth with downturned corners, short and wide neck, swirly hyperpigmentation of the skin, and body asymmetry secondary to right hemihyperplasia. As there was an admixture of 45,X and trisomy 14, it was not possible to determine the cell line that had the greatest influence on the phenotype. We postulate that the proposita's survival until the third decade was owing to the chromosomal complementation of both aneuploidy cell lines. To our knowledge, this chromosomal association has not been previously reported.
Assuntos
Cromossomos Humanos Par 14 , Mosaicismo , Trissomia , Síndrome de Turner/genética , Adulto , Feminino , HumanosRESUMO
True hermaphroditism is a disorder of sexual differentiation characterized by the presence of ovarian and testicular tissue in a person and it determines an increased risk for developing gonad cancer. Diagnostic and medical-surgical procedures with opportunity and successful in true hermaphroditism, facilitate the prevention of gonadoblastoma, besides contributing to solving social problem for assignation of sex. In this paper we present two cases with true hermaphroditism that had cytogenetic analysis and search for sequences of chromosome Y. Both patients, had a karyotype 46,XX and showed positive polymorphic regions in chromosome Y. The molecular detection of the Y chromosome is a non-invasive and fast procedure that allows explore cell lines by cytogenetic analysis. We conclude that this procedure is useful as it streamlines the management of disorders of sexual differentiation to identify individuals with higher risk to gonad cancer.