Sickle Cell Hemoglobinopathy

DeJong, Richard G.; Platou, R. V.

doi:10.1001/archpedi.1967.02090170135016

Cited by 18 publications

(13 citation statements)

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“…To terminological confusion, it appears reasonable to designate the extra crease in Case 2 as a ring crease of the little finger and the creases in the other three cases and in Furuya's et al (1967) case as extra interphalangeal transverse creases, respectively. It has been reported that an extra crease distal to the distal interphalangeal crease of the middle finger is frequently seen in patients with sickle cell disease (DeJong and Plato, 1967). Of the four subjects found to have an extra transverse crease on the little finger in the present study, two were patients with urological disorders.…”

Section: Discussionsupporting

confidence: 40%

Extra interphalangeal transverse creases of the little finger

1978

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SummaryA series of 283 male and 268 female individuals were examined for digital flexion creases on the little fingers. Two males and two females were found to have an extra interphalangeal transverse crease situated betweeen the metacarpophalangeal and proximal interphalangeal creases. The extra crease of the little finger was unilateral or bilateral. None of the little fingers with extra crease had radiographic anomalies of the bones or joints, or evidence of dyskinesia.Three digital flexion creases are normally observed to exist on the little finger, i.e. metacarpophalangeal crease and proximal and distal interphalangeal creases.A ring crease, which is usually present as a metacarpophalangeal crease on the middle finger and ring finger, is only rarely found on the little finger (Okajima, 1966).A single interphalangeal crease on the little finger represents, as generally recognized, a characteristic dermatoglyphic trait in Down's syndrome, 18-trisomy, de Lange syndrome and oral-facial-digital syndrome (Alter, 1966;Preus and Fraser, 1972). The defect of one of the digital creases of little finger in these conditions, therefore, has been attracting attention of many investigators.There is a dearth of detailed information of cases with an extra transverse digital crease on the little finger, in addition to the usual three digital creases. We examined a series of 551 individuals for the extra transverse flexion crease of the little fingers (1102 fingers). Four subjects were found to have this trait located between the proximal interphalangeal crease and metacarpophalangeal crease. The present communication deals with the observation of extra interphalangeal transverse creases on the little fingers in these four cases. MATERIALS AND METHODSA total of 1102 little fingers of 283 males and 268 females were studied. The subjects consist of 199 male and 85 female urological patients, 69 males and 42 females from 15 male and 141 female spouses of the patients and their relatives,

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Section: Discussionsupporting

confidence: 40%

Extra interphalangeal transverse creases of the little finger

1978

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“…This study describes the presence of supernumerary flexion creases in 35% of an AGS population and provides a new aid to diagnosis. Supernumerary digital creases of the fifth finger have been reported in less than 1% of the general population [Komatz et al, 1978] and distal interphalangeal supernumerary creases have been reported to be as high as 11% in a control population for a study of patients with sickle cell disease [DeJong and Platou, 1967;Zizmor, 1973]. Supernumerary digital flexion creases were not identified in 250 patients referred for genetics consultation to one of the authors of this study (I.D.K.)…”

Section: Discussionmentioning

confidence: 65%

“…Although literature on the subject is scarce, supernumerary digital creases of the fifth finger have been reported in less than 1% of the general population [Komatz et al, 1978]. In studies of individuals with sickle cell anemia, supernumerary digital flexion creases of the distal interphalangeal joints were noted in 24-90% of individuals with sickle cell anemia and in 7-11% of the control populations studied [DeJong and Platou, 1967;Zizmor, 1973]. This may indicate that prevalence rates of supernumerary digital flexion creases may vary among different populations.…”

Section: Introductionmentioning

confidence: 99%

“…A reduced number of digital flexion creases has been seen in the fetal alcohol syndrome [Jones and Smith, 1973], Down syndrome [Plato et al, 1973], trisomy 18 [Hodes et al, 1978], and in several disorders involving digital joint flexion limitations. Supernumerary digital creases have been described in partial deletions of chromosome 1q [Watson et al, 1986], partial trisomy of 14q [Raoul et al, 1975], partial trisomy of 13q [Schinzel et al, 1976], cerebrooculo-facio-skeletal syndrome [Lurie et al, 1976], and in sickle cell disease [DeJong and Platou, 1967;Zizmor, 1973]. Individuals with Larsen syndrome have been reported to have both supernumerary and reduced numbers of digital flexion creases [Latta et al, 1971;Dallapiccola and Capra, 1973].…”

Section: Introductionmentioning

confidence: 99%

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Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome

et al. 2002

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Alagille syndrome (AGS; OMIM 118450) is a complex dominantly inherited multisystem disorder involving the liver, heart, eyes, facies, skeleton, and other systems. Criteria for the clinical diagnosis have been established as the presence of bile duct paucity on liver biopsy in association with three of five major clinical findings (cholestasis, butterfly vertebrae, posterior embryotoxon, congenital heart disease, and facial features). Jagged1 has been identified as the AGS disease gene. Jagged1 is a large gene, with no mutational hot spots, making molecular testing difficult at this time. Other clinical features would prove helpful in establishing the diagnosis in the absence of molecular confirmation. Supernumerary digital flexion creases have been identified in 16/46 (35%) of AGS probands examined through the Alagille Syndrome Diagnostic Center at the Children's Hospital of Philadelphia. Although digital abnormalities have been noted in AGS in the past, including short distal phalanges and fifth finger clinodactyly, digital crease abnormalities have never before been reported. Supernumerary digital creases have been reported in less than 1% of the general population. The presence of extra and missing digital creases in individuals with normal joint anatomy, their occurrence in several syndromes, and mouse in situ expression studies indicate that genetic factors contribute to digital crease formation. However, these factors are poorly understood. Hypotheses regarding the origin of flexion creases are discussed. The identification of supernumerary digital creases in one‐third of AGS probands provides another diagnostic aid and allows for speculation of the role of Jagged1 in the molecular development of digital crease patterns. © 2002 Wiley‐Liss, Inc.

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“…Recently, it has become much more common [51 1985 and 1990. Serology for HIV antibody was done in all.…”

Section: Dermatitismentioning

confidence: 99%

Global Dermatology

1994

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Printed on acid-free paper.© 1994 Springer-Verlag New York, Inc.Softcover reprint of the hardcover 1st edition 1994All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer-Verlag New York, Inc., 175 Fifth Avenue, New York, NY 10010, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information, storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use of general descriptive names, trade names, trademarks, etc., in this publication, even if the former are not especially identified, is not to be taken as a sign that such names, as understood by the Trade Marks and Merchandise Marks Act, may accordingly be used freely by anyone. While the advice and information in this book are believed to be true and accurate at the date of going to press, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein.Typeset by Techset Composition, Ltd., United Kingdom Production by TechEdit Production Services; and supervised by Natalie Johnson. Manufacturing Supervised by Jacqui Ashri 987654321 ISBN-13:978-1-4612-7607-4 e- ISBN-13:978-1-4612-2614-7 DOl: 10.1007/978-1-4612-2614 To our wives: Sheila and Jeanine Susan, Margaret, Anne, and Mary Ann PrefaceThe concept of a textbook of global dermatology grew from the forums conducted by us at the annual meetings of the American Academy of Dermatology. Initially, these sessions were titled "Tropical Dermatology," but later we selected Global Dermatology as ~ term seemingly more attractive to the North American participants. An equally important factor in the development of this book grew from a desire to revise and enlarge the textbook, Manual of Tropical Dermatology. 1 By global, we hope to convey with this word the tenets of the International Society of Dermatology: Tropical, Geographic and Ecologic. The actual use of the term global dermatology should be attributed to Frederick Reiss, founding Secretary-General of the Society, who wrote two decades ago: the investigation of geographic ecology of skin and venereal disease and basic research. This means global dermatology and venereology. 2 We had originally thought we had coined the term, when four years ago we embarked on this project. We had previously discarded international as being too political, and racial as being too charged.Many books are concerned with tropical dermatology, 1,3-5 tropical venereology,6 racial differences/'s the environment,9 or with travel medicine, 10 but none to our knowledge has examined skin diseases and how they may differ in various parts of the world due to socioeconomic, ecologic, climatologic, or genetic influences. We wanted to know why the dermatologists of yesteryear alwa...

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Sickle Cell Hemoglobinopathy

Cited by 18 publications

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Extra interphalangeal transverse creases of the little finger

Extra interphalangeal transverse creases of the little finger

Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome

Global Dermatology

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