Dermatoglyphic findings in Laurence-Moon-Biedl syndrome.

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Laurence-moon-biedl Syndrome.

Case Report A boy aged 10 years was brought to the children's out-patient department of the Patna Medical College Hospital on account of his abnormal flabbiness and mental deficiency. In addition he had not been able to see very well for some time, particularly at night. He was the third child of his parents, who were healthy and not consanguineous. The family, traced to four generations on the...

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Laurence-Moon-Biedl syndrome

This report describes a case of Laurence-Moon-Biedl syndrome identified ina24-monthold boy. Significant renal involvement was present with right-sided vesicoureteral reflux, cystocele, urinary tract infections, and growth arrest of the right kidney. After the development of hypertension a left renal biopsy was performed to determine if bilateral renal disease was present. Histopathological and ...

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Laurence-moon-biedl Syndrome.

A young man aged 18 years attended the out-patients' department, complaining of defective vision in both eyes, more marked in the dusk. He had been born at full term, and was the first child of normal parents with three younger brothers who were healthy and had no ocular complaints. As far as could be ascertained there was no family history in the past three generations. The various milestones ...

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Introduction. Laurence-Moon-Biedl (LMB) syndrome is a rare autosomal-recessive ciliopathy with manifold symptomatology. The cardinal clinical features include retinitis pigmentosa, obesity, intellectual delay, polydactyly/syndactyly, and hypogenitalism. In this paper, the authors report on three siblings with Laurence-Moon-Biedl syndrome associated with a probable pseudocycloid form of congenit...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1980

ISSN: 1468-6244

DOI: 10.1136/jmg.17.1.75