RESUMEN
We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia. Two were sporadic cases and two were familial cases, a mother and her equally affected son. Recently, the reports with different combination of these signs were reviewed by Gorlin et al. [1996; Am J Med Genet 65:109-112] and named blepharocheilo-dontic (BCD) syndrome. Variable expressivity and autosomal dominant inheritance were observed.
Asunto(s)
Blefarofimosis/patología , Labio Leporino/patología , Fisura del Paladar/patología , Ectropión/patología , Anomalías Dentarias/patología , Adulto , Niño , Femenino , Humanos , Masculino , SíndromeAsunto(s)
Anomalías Múltiples/patología , Síndrome de Bandas Amnióticas/complicaciones , Displasia Ectodérmica/complicaciones , Síndrome de Bandas Amnióticas/patología , Brazo/anomalías , Brazo/diagnóstico por imagen , Niño , Labio Leporino/complicaciones , Fisura del Paladar/complicaciones , Displasia Ectodérmica/patología , Humanos , Recién Nacido , Pierna/anomalías , Pierna/diagnóstico por imagen , Masculino , Conducto Nasolagrimal/anomalías , RadiografíaRESUMEN
We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing loss. This combination of anomalies appears to constitute the Michels syndrome.
Asunto(s)
Anomalías Múltiples/patología , Consanguinidad , Huesos/anomalías , Brasil , Labio Leporino , Fisura del Paladar , Craneosinostosis , Sordera/congénito , Párpados/anomalías , Cara/anomalías , Femenino , Humanos , Recién Nacido , Masculino , SíndromeRESUMEN
A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested.
Asunto(s)
Anomalías Múltiples/genética , Blefarofimosis/genética , Cara/anomalías , Dedos/anomalías , Adulto , Niño , Humanos , Fenotipo , SíndromeRESUMEN
We have evaluated 25 patients (14 isolated and 11 familial cases) with the EEC syndrome for genitourinary (GU) tract anomalies through intravenous pyelogram (IVP), voiding urethrocystography, and sonographic examination. Fifty-two percent of the patients (7 isolated and 6 familial cases) had involvement of the urinary tract, with no significant difference between isolated and familial cases. The present data seem to reflect the best estimate of the prevalence of genitourinary anomalies in patients with the EEC syndrome.
Asunto(s)
Anomalías Múltiples/genética , Displasia Ectodérmica/genética , Anomalías Urogenitales , Anomalías Múltiples/epidemiología , Brasil/epidemiología , Displasia Ectodérmica/embriología , Displasia Ectodérmica/epidemiología , Femenino , Genes Dominantes , Humanos , Recién Nacido , Masculino , Síndrome , Sistema Urogenital/embriologíaRESUMEN
We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome.
Asunto(s)
Anomalías Múltiples/patología , Blefarofimosis , Fisura del Paladar , Síndrome de Marfan , Niño , Consanguinidad , Femenino , Genes Recesivos , Humanos , Trastornos Psicomotores , SíndromeRESUMEN
We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented by these patients suggests the diagnosis of Goltz-Gorlin (Focal dermal hypoplasia) syndrome and EEC syndrome.
Asunto(s)
Anomalías Múltiples , Displasia Ectodérmica/complicaciones , Hipoplasia Dérmica Focal/clasificación , Niño , Anomalías del Ojo/complicaciones , Femenino , Humanos , Lactante , Deformidades Congénitas de las Extremidades , Anomalías de la Boca/complicaciones , Síndrome , Anomalías UrogenitalesRESUMEN
We report on a Brazilian boy with ectrodactyly, cleft lip/palate, and abnormal pinnae. The clinical aspects involving this patient strongly suggest those reported by Lewis and Pashayan in 1981. Clinical and genetic aspects are discussed.
Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/genética , Niño , Humanos , MasculinoRESUMEN
We report on 20 Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC syndrome). Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed.
Asunto(s)
Anomalías Múltiples/genética , Displasia Ectodérmica/genética , Deformidades Congénitas de la Mano/genética , Anomalías de la Boca/genética , Adolescente , Adulto , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Deformidades Congénitas del Pie/genética , Genes Dominantes , Humanos , Lactante , Recién Nacido , Aparato Lagrimal/anomalías , Deformidades Congénitas de las Extremidades , Masculino , Anomalías de la Boca/diagnóstico , Linaje , SíndromeRESUMEN
We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft lip/palate, mental retardation, syndactyly of fingers 2-3, accessory nipples, and ear anomalies. The similarities of these 3 brothers to previously reported cases and the pattern of inheritance are discussed.