RESUMEN
The hereditary paraplegias are a heterogeneous group of genetic disorders characterized mainly by spastic paraparesis, which may be found as an isolated "pure form" known as Strümpell-Lorrain syndrome, or associated with a wide group of other manifestations [Harding, 1990; McKusick, 1994]. We studied two unrelated families, one with five members and the other with 11 members (over four generations), affected by a syndrome of late onset spastic paraparesis and dementia. Both pedigrees suggest an autosomal dominant pattern of inheritance. However, this cannot be concluded definitely because male-to-male transmission was not seen. Since this disorder has a late age of onset, we still do not know who will become affected in the second, third, and fourth generations. The association of late onset spastic paraparesis and dementia, without other pathological findings, has not been reported and probably represents a distinct entity.
Asunto(s)
Demencia/genética , Paraparesia Espástica Tropical/genética , Paraplejía/genética , Adulto , Electromiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , LinajeRESUMEN
A father and son with unusual congenital skeletal symptoms, mainly characterized by short stature and epiphyseal dysplasia limited to the femoral heads are described. The comparative analysis with other spondyloepiphyseal dysplasias supports the notion that the syndrome reported here is a distinct autosomal dominant connective tissue disorder.
Asunto(s)
Aberraciones Cromosómicas/genética , Epífisis/anomalías , Cabeza Femoral/anomalías , Genes Dominantes/genética , Osteocondrodisplasias/genética , Adulto , Trastornos de los Cromosomas , Enanismo/diagnóstico por imagen , Enanismo/genética , Epífisis/diagnóstico por imagen , Cabeza Femoral/diagnóstico por imagen , Humanos , Lactante , Masculino , Osteocondrodisplasias/diagnóstico por imagen , RadiografíaRESUMEN
We present a family in which five members over three generations have a syndrome characterized by camptodactyly, flattened bodies of cervical vertebrae, and a variable degree of thoracic scoliosis. After excluding other camptodactyly syndromes, it was concluded that this association of anomalies probably represents a new autosomal dominant syndrome.
Asunto(s)
Vértebras Cervicales/anomalías , Dedos/anomalías , Genes Dominantes , Escoliosis/genética , Adolescente , Vértebras Cervicales/diagnóstico por imagen , Femenino , Humanos , Masculino , Linaje , Radiografía , SíndromeRESUMEN
The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth. This is the seventh reported case, and the first one in which the patient also presents with optic atrophy. Autosomal recessive inheritance has been proposed until now, however, the increased paternal age seen in this case is suggestive of a possible autosomal dominant de novo mutation.
Asunto(s)
Anomalías Múltiples/genética , Cara/anomalías , Trastornos del Crecimiento/genética , Discapacidad Intelectual/genética , Preescolar , Genes Dominantes , Humanos , Masculino , Mutación , Atrofia Óptica/genética , SíndromeRESUMEN
A male clinically affected by the OEIS complex was studied. His mother, aged 30 years, has an affective disorder and ingested 30 mg of Diazepam daily, from 3 months previous to the gestation and during the entire pregnancy. At birth, a closure during the entire pregnancy. At birth, a closure defect of the anterior abdominal wall, exstrophy of hemibladders, exposure of intestinal epithelium, abnormal pelvis, imperforate anus, and bifid penis were noted. Birth weight was 3600 g and other measurements were not recorded. Colostomy was performed in the postnatal period followed by partial closure of the abdominal wall defect, and iliac osteotomies. At six years, 6 months of age, physical examination showed somatometric measurements around the third percentile (height 109 cm, weight 17 kg, cephalic circumference 48.5 cm). Clinically he presented mild mental retardation, functional colostomy, incomplete closure of the vesical exstrophy, imperforate anus, bifid penis and scrotum, descended testes, diastasis of pubis, lumbosacral scoliosis and shortening of the left leg (clinical photograph of the external features is not included as we were not able to obtain authorization to do so). Radiological studies (Figure 1) revealed wide separation of the ischiopubic bones; lumbosacral region with rotoscoliosis, platyspondyly and dysraphism; left coxa valga, and right coxa vara. The abdominal ultrasonographic studies showed unilateral renal agenesis (left). Chromosomal analysis (GTG bands) in peripheral blood lymphocyte cultures demonstrated a normal 46,XY constitution. Exposure to other substances, particularly alcohol, were excluded with the study of the mother's medical history and through information obtained from relatives.(ABSTRACT TRUNCATED AT 250 WORDS)
Asunto(s)
Anomalías Inducidas por Medicamentos , Anomalías Múltiples/inducido químicamente , Diazepam/efectos adversos , Anomalías Inducidas por Medicamentos/diagnóstico por imagen , Anomalías Múltiples/diagnóstico por imagen , Adulto , Ano Imperforado/inducido químicamente , Extrofia de la Vejiga/inducido químicamente , Femenino , Hernia Umbilical/inducido químicamente , Humanos , Recién Nacido , Masculino , Embarazo , Radiografía , Disrafia Espinal/inducido químicamenteRESUMEN
Deletion of the short arm of chromosome number 3, has been proposed as a distinctive syndrome, all cases are "de novo" deletions and the band 3p26 was systematically involved. The comparative study of the 21 reviewed cases (including one reported here) allows to conclude that there is no consistent association to delineate a typical clinical syndrome.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas/genética , Deleción Cromosómica , Cromosomas Humanos Par 3 , Anomalías Múltiples/diagnóstico , Aberraciones Cromosómicas/diagnóstico , Trastornos de los Cromosomas , Reordenamiento Génico/genética , Humanos , Lactante , Masculino , Edad Paterna , Fenotipo , SíndromeRESUMEN
We describe seven patients from two Mexican families with congenital macroglossia. Comparative analysis of these cases and the patients previously described in literature, allows to confirm the notion that this isolated primary macroglossia is a distinct dominant condition.
Asunto(s)
Genes Dominantes/genética , Macroglosia/genética , Adulto , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Lactante , Cariotipificación , Masculino , Linaje , Embarazo , SíndromeRESUMEN
The Aarskog syndrome is a true MCA syndrome with X-linked recessive inheritance. The clinical phenotype, and its evolution with age, have been well documented in the past. Few data are reported on the radiological skeletal changes and findings. The purpose of the present paper is to describe the clinical and radiological findings in two brothers with Aarskog syndrome and to further delineate the radiological characteristics of this condition. The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth fingers, short and broad first metacarpals and metatarsals and pelvic hypoplasia.