RESUMEN
We report on clinical evaluations of Brazilian patients with misoprostol-induced arthrogryposis. All 15 patients had growth retardation, underdeveloped bones, short feet with equinovarus, rigidity of several joints with skin dimples and webs, decreased movement of legs stemming from neurologic impairment, bilateral symmetrical hypoplasia or atrophy of limb muscles, and absent tendon reflexes. Of the 15 patients, five had upper limb deformities in addition to lower limb involvement, and one had spinal cord disruption leading secondarily to segmental sensory loss and neurogenic bladder and bowel. Electroneuromyography of five patients indicated that the abnormalities were of neurogenic origin and suggestive of anterior horn cell defects. All of their mothers took 400-4,800 mcg of misoprostol orally or vaginally at 8 to 12 weeks of pregnancy. Our observations support a previously stated caution with regard to the embryotoxicity of misoprostol.
Asunto(s)
Anomalías Inducidas por Medicamentos/etiología , Abortivos no Esteroideos/efectos adversos , Artrogriposis/inducido químicamente , Embrión de Mamíferos/efectos de los fármacos , Misoprostol/efectos adversos , Abortivos no Esteroideos/administración & dosificación , Administración Intravaginal , Administración Oral , Adolescente , Adulto , Niño , Preescolar , Femenino , Retardo del Crecimiento Fetal/inducido químicamente , Humanos , Lactante , Recién Nacido , Deformidades Congénitas de las Extremidades/inducido químicamente , Masculino , Misoprostol/administración & dosificación , EmbarazoRESUMEN
Spondylocarpotarsal synostosis syndrome (SSS) or congenital synspondylism is a recently delineated clinical entity. At least 15 patients have been reported. We present 3 new patients, 2 of whom were sibs born to first-cousin parents. All of our patients had multiple synostoses involving cervical, thoracic and/or lumbar vertebral bodies and carpal/tarsal bones, scoliosis/lordosis, and short stature. Sensorineural deafness was found in 2 of the 3 patients. Analysis of clinical manifestations suggests clinical variability and genetic heterogeneity in SSS. Of a total of 18 SSS patients, 10 were five pairs of sibs from five families, with first-cousin consanguinity of parents in 3, indicating that at least one type of SS is an autosomal-recessive disorder.
Asunto(s)
Anomalías Múltiples/diagnóstico , Sinostosis/diagnóstico , Anomalías Múltiples/genética , Huesos del Carpo/anomalías , Huesos del Carpo/diagnóstico por imagen , Niño , Preescolar , Femenino , Deformidades Congénitas de la Mano/genética , Humanos , Linaje , Radiografía , Escoliosis/genética , Columna Vertebral/anomalías , Columna Vertebral/diagnóstico por imagen , Síndrome , Sinostosis/genética , Huesos Tarsianos/anomalías , Huesos Tarsianos/diagnóstico por imagenAsunto(s)
Glicerol Quinasa/deficiencia , Proteínas Musculares/análisis , Músculos/patología , Distrofias Musculares/genética , Fosfotransferasas/deficiencia , Biopsia , Sondas de ADN , Distrofina , Humanos , Lactante , Recién Nacido , Masculino , Distrofias Musculares/diagnóstico , Distrofias Musculares/patologíaRESUMEN
A previously unrecognized mental retardation malformation syndrome was observed in five unrelated Japanese children. Consistent clinical features included moderate-to-severe mental retardation, progressive dwarfism of postnatal onset, a peculiar facies characterized by long palpebral fissures, with eversion of the lateral third of the lower eyelids, arched eyebrows, broad and depressed nasal tip, large prominent earlobes, short fifth fingers, abnormal dermatoglyphics including absence of digital triradius c or d, and frequent otitis media in infancy. Inconsistent abnormalities included epicanthal folds, cleft or high-arched palate, widely spaced teeth, low occipital hair line, scoliosis, and dislocation of the hip joint. Neither familial occurrence nor parental consanguinity was noted. The etiology of the malformation syndrome remains unknown.