Read e-book online Annual Review of Hydrocephalus: Volume 6 1988 PDF

By Concezio Di Rocco, Mario Rende (auth.), Satoshi Matsumoto M.D., Kiyoshi Sato M.D., Norihiko Tamaki M.D., Shizuo Oi M.D. (eds.)

ISBN-10: 3662111527

ISBN-13: 9783662111529

ISBN-10: 3662111543

ISBN-13: 9783662111543

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The patients with time length greater than 5 years from SAH to Ro u t measurement are omitted from the plot. Intracranial Pressure Estimation by Palpation of the Anterior Fontanelle Anthony M. KAISER and Andrew G. L. WHITELAW Research Fellow and Consultant Neonatologist, Royal Postgraduate Medical School, London , UK Intracranial pressure (ICP) may be assessed in infancy by fingertip palpation of the anterior fontanelle. The fontanelle acts as apressure vent, displaced centrifugally by an increase in 26 Annual Revi ew of Hydr ocephalu s ICP.

Finding absent. ND=finding not demonstrated. *Numerator=number of patients having finding. o Denominator=number of patients in which finding (irr espective of presence or absence) is mentioned. Symptomatology 41 days. The literature is reviewed and the cIinical and pathologieal findings of our patient are compared with those of the fifty previously reported cases. The differential diagnosis of the condition is discussed. (Am J Med Genet 27: 935-942, 1987) Key words: Hydrocephalus, Encephalocele, Prolonged survival, Autosomal recessive inheritance Three Adult Siblings of Gaucher's Disease with Corneal Opacities, Deafness, Valvular Heart Disease, Deformed Toes, Communicating Hydrocephalus and Leptomeningeal Thickening Eiichiro UYAMA ,1 Shukuro ARAKI ,1 Shoichiro KAWASAKI,2 Ryoichi OKAMURA,3 and Misao ÖWADA4 IFirst Department of Internal Medicine and 3Department of Ophthalmology, Kumamoto University Medical School, Kumamoto; 2Department of Medical Neurology, Prefectural Nobeoka Hospital, Miyazaki ; and "Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan Three adult siblings of Gaucher's disease with quite unusual cIinieal features ; corneal opacities, deafness, valvular heart disease , deformed toes , communieating hydrocephalus and leptomeningeal thickening are presented.

CASSIDy2 IDepartment of Pediatrics, William Beaumont Hospital, Royal Oak, Michigan , USA ; and Department of Pediatrics, The University of Arizona, Tueson , Arizona , USA We present an infant with manifestations of the hydrolethalus syndrome who survived for over eight months; previously, the longest reported survival in this condition has been two Table. Comparison of manifestations in the hydrolethalus syndrome Manifestation Survival Norm al chromosomes Hydrocephalus Micrognathia Polydactyly foot hand H ydramnios Airwayanomalies Congenit al heart defect Propositus Other cases (n=50) 8 mo + + + + + + + ND + 0-2 days (10 liveborn) 15*/15° 45 /47 41 /41 39 /44 29 /37 21 /37 30 /35 29 /38 24 /36 (murmur) Norm al kidneys Occipitoschisi s Genital anomalies Lung anomalies Ear anom alies Foot deformity Eye anomalies Cleft lip and/or palate Absent midline brain structures Other limb anomalies Nose anom alies Tongue anomalies Omphalocoele/incomplete gut rotation Hypoplastic post erior fossa + + + ND + + + + 23 23 18 17 16 16 16 16 15 13 10 10 8 1 /25 /26 /28 /32 /17 /21 /24 /29 /33 /37 /10 /13 /28 / 1 +=finding present.

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Annual Review of Hydrocephalus: Volume 6 1988 by Concezio Di Rocco, Mario Rende (auth.), Satoshi Matsumoto M.D., Kiyoshi Sato M.D., Norihiko Tamaki M.D., Shizuo Oi M.D. (eds.)

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