نتایج جستجو برای: rib polydactyly syndrome
تعداد نتایج: 631580 فیلتر نتایج به سال:
How do governments distribute basic public services when budget constraints necessitate their rationing? This paper examines variations in the distribution of scarce electrical power in northern India over the last two decades. Drawing on a novel set of satellite imagery of the earth at night that avoids the biases and missing data problems affecting traditional measures, I construct annual ind...
Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder with polydactyly and syndactyly of the limbs and a broad spectrum of craniofacial abnormalities. Craniosynostosis of the metopic suture (interfrontal suture in mice) is an important but rare feature associated with GCPS. GCPS is caused by mutations in the transcription factor GLI3, which regulates Hedgehog signaling. ...
A case of a first rib fracture and Horner's syndrome due to a motor vehicle collision is reported. Initial evaluation in a hospital emergency department and follow-up by a medical primary care physician failed to provide identification of the Horner's syndrome. Careful assessment and review of the patient's symptoms, signs and images revealed this uncommon and important neurologic case presenta...
Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome has been recently recognized and is very rare. Each case reported so far has demonstrated hydrocephalus to varying degrees. We report an infant with MPPH syndrome, but lacking frank hydrocephalus. The additional finding of an abnormally elongated pituitary infundibulum has not been described in this syndrome and, alo...
We present the case of a 68-year-old woman, referred to our department for critical upper limb ischemia, which had occurred a few days after homolateral surgical ligamentotomy for carpal tunnel syndrome, diagnosed and confirmed by electromyography, and performed with a brachial tourniquet. The patient was later admitted for subsequent progressive necrosis of the first three fingers of the left ...
Jarcho-Levin syndrome a very rare anomaly is described for a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and vertebral anomalies. The patient is two months old infant with spondylocostal dysostosis and bilateral direct recurrent inguinal hernia. He was successfully operated by a new method and after 36 months follow up he did not have any problem.
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by early onset retinitis pigmentosa, post axial polydactyly, central obesity, mental retardation, hypogonadism and kidney structural abnormalities or functional impairment.1 We report here a typical case of Laurence-Moon-Bardet-Biedl syndrome in an eleven-year old boy wit...
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