The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.
Last. Arian Sultan(University of Cologne)H-Index: 13
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A pediatric patient suffering from Marden-Walker syndrome, a rare genetic disease, was referred to the authors' hospital for syncope due to bradycardia. Since this disease is associated with severe joint contractures, a transcatheter leadless pacing system (TPS) was chosen. Despite the small body size and complex anatomy, TPS implantation was feasible, demonstrating that it is a safe alternative in difficult venous access compared to a conventional pacemaker with increased risk of lead complicat...
We present an unknown case of an 11-year-old boy with mental retardation, microcephaly, prominent ears, unilateral ptosis, long philtrum, prominent and everted lower lip, abnormally shaped teeth and developmental delay. This is an unknown case with special facial features and mental retardation which can probably be the second case of Mehta-Lewis-Patton syndrome.
#1Jean K. Mah(U of C: University of Calgary)H-Index: 23
Publisher Summary Myogenic development and differentiation is regulated by a number of developmental genes. Abnormal suprasegmental input from the brain and spinal cord can lead to maturational delay, histochemical alterations, and/or aberrant morphology in the developing muscles. Similarly, the disorders of the ventral horn cells, neuromuscular junction, and peripheral nerves can be associated with central nervous system (CNS) malformations. The presence of upper and lower motor neuron signs or...
We report the autopsy case of a boy with arthrogryposis multiplex congenita, associated with callosal agenesis and dentato-olivary dysplasia. The patient manifested with dysmorphic facial features and suffered from intractable epilepsy during the neonatal period. These sets of complications suggest that a common molecular mechanism may be involved in the development of corpus callosum and the folding of the dentate and inferior olivary nuclei. Deep brain structures, including the brainstem and t...
#2John C. Carey(UofU: University of Utah)H-Index: 63
Last. Elaine H. Zackai(UPenn: University of Pennsylvania)H-Index: 90
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Toriello and Carey [1988: Am J Med Genet 31:17-23] first described a syndrome with component manifestations of corpus callosum agenesis, unusual facial appearance, Robin sequence, and other anomalies. This was termed the Toriello-Carey syndrome by Lacombe et al. [1992: Am J Med Genet 42:374-376]. Since then, 11 reports describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the u...
#2Timothy C. Hain(American Physical Therapy Association)H-Index: 29
Periodic alternating nystagmus is a rare central nervous system disorder in which the eyes undergo a horizontal jerk nystagmus that periodically reverses direction. A patient with a hypoplastic cerebellum and enlarged cisterna magna exhibited transient periodic alternating nystagmus following an attack of Meniere's disease. We hypothesize that in susceptible individuals with cerebellar disturbances, periodic alternating nystagmus may be transiently induced by vestibular stimuli.