RESUMO
Milroy's primary congenital lymphedema (PCL) (hereditary lymphedema type I, Milroy disease) is present at birth, and mostly affects the dorsal aspects of feet. It is mostly a life-long condition but does not affect longevity. Complications are rare except for chronic discomfort and warmness of affected areas. PCL is an autosomal dominant disease with incomplete penetrance due to a mutation in the gene locus encoding for VEGFR3 with resultant dysgenesis of microlymphatic vessels. We report on two fetuses where ultrasonographic examination at 15 weeks of gestation showed significant edema of the dorsal aspects of both feet with no evidence of other major malformations. Whereas in one fetus the edema resolved completely, it persisted in the second fetus and proved after birth to be of lymphedematous nature. To the best of our knowledge, this is the first report of early prenatal diagnosis of primary congenital lymphedema via fetal ultrasonographic examination and of spontaneous resolution of lymphedema during fetal life.
Assuntos
Linfedema/congênito , Linfedema/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Blefaroptose/diagnóstico , Blefaroptose/embriologia , Pré-Escolar , Diagnóstico Diferencial , Edema/diagnóstico por imagem , Edema/embriologia , Pestanas/anormalidades , Feminino , Pé/diagnóstico por imagem , Pé/embriologia , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Sistema Linfático/anormalidades , Linfedema/complicações , Masculino , Síndrome de Noonan/diagnóstico , Gravidez , Síndrome de Turner/diagnósticoRESUMO
A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23), is reported. Comparison with other cases of BPES resulting from 3q rearrangements indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23.
Assuntos
Anormalidades Múltiplas/genética , Blefarofimose/genética , Blefaroptose/genética , Aberrações Cromossômicas/genética , Cromossomos Humanos Par 3/ultraestrutura , Doenças Fetais/genética , Hérnia Diafragmática/genética , Deleção de Sequência , Anormalidades Múltiplas/embriologia , Aborto Induzido , Blefarofimose/embriologia , Blefaroptose/embriologia , Transtornos Cromossômicos , Mapeamento Cromossômico , Feminino , Idade Gestacional , Hérnia Diafragmática/embriologia , Humanos , Masculino , GravidezRESUMO
A patient with Waardenburg syndrome type II associated with Hirschsprung megacolon and Marcus Gunn ptosis is presented. It is suggested that these different anomalies are manifestations of the same neurocrestopathy.
Assuntos
Anormalidades Múltiplas/embriologia , Blefaroptose/embriologia , Doença de Hirschsprung/embriologia , Crista Neural , Síndrome de Waardenburg/embriologia , Adolescente , Feminino , HumanosRESUMO
It is suggested that the association of ptosis and superior rectus muscle underaction is most likely due to the common embryological origins of these two muscles from the same superior mesodermal complex.
Assuntos
Blefaroptose/embriologia , Músculos Oculomotores/embriologia , Blefaroptose/fisiopatologia , Humanos , Desenvolvimento Muscular , Músculos Oculomotores/crescimento & desenvolvimento , Músculos Oculomotores/fisiopatologiaRESUMO
Twenty-one patients with Noonan syndrome are presented. Telecanthus low-set ears, epicanthus and facial asymmetry were the commoner facial stigmata. Pterygium colli, pectus excavatum-carinatum and mild physical and mental retardation were also common features. Pulmonary stenosis and patent ductus arteriosus were the most frequent cardiac anomalies. Wide QRS, left axis deviation, giant Q waves and a negative pattern in V6 were useful electrocardiographic signs. We speculate that the Noonan syndrome could be considered as a branchial arch development syndrome.
