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Picture of the Month Abstract Denouement and Discussion Syndromes Associated With Thumb Abnormalities Diagnoses Rubinstein-Taybi Syndrome.—The terminal phalanges of the toes and thumbs (and frequently other fingers) are broad and may be angulated. Characteristic features of the face include downward-slanting palpebral fissures, strabismus, beaking of the nose, short philtrum, and microcephaly. Mental retardation and short stature are usually present.Holt-Oram Syndrome.—Thumb abnormalities vary and include aplasia, hypoplasia, or a triphalangeal thumb that is fingerlike in appearance and is usually on the same plane as the fingers. The radius, ulna, clavicle, and scapula may be abnormal. Although many types of congenital heart disease have been reported, the most common one is an atrial septal defect. Inheritance is in an autosomal dominant manner.Marfan's Syndrome.—The thumb sign occurs because of the hyperextensibility ofthe joints. The hand is large, and fingers are gracile. Skeletal abnormalities include long limbs, pectus deformities, kyphoscoliosis, genu recurvatum, and flat feet. The face is References 1. Rubinstein JH, Taybi H: Broad thumbs and toes and facial abnormalities . AJDC 1984;105:88-108. 2. Padfield DJ, Partington MW, Simpson NE: Rubinstein-Taybi syndrome . Arch Dis Child 1967;43:94-106.Crossref 3. Kaufman RL, Rimoin DL, McAlister WH, et al: Variable expression of the Holt-Oram syndrome . AJDC 1974;127:21-25. 4. Pyeritz RE, McKusick VA: The Marfan syndrome: Diagnosis and management . N Engl J Med 1979;300:772-777.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

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References (4)

Publisher
American Medical Association
Copyright
Copyright © 1985 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1985.02140070103049
Publisher site
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Abstract

Abstract Denouement and Discussion Syndromes Associated With Thumb Abnormalities Diagnoses Rubinstein-Taybi Syndrome.—The terminal phalanges of the toes and thumbs (and frequently other fingers) are broad and may be angulated. Characteristic features of the face include downward-slanting palpebral fissures, strabismus, beaking of the nose, short philtrum, and microcephaly. Mental retardation and short stature are usually present.Holt-Oram Syndrome.—Thumb abnormalities vary and include aplasia, hypoplasia, or a triphalangeal thumb that is fingerlike in appearance and is usually on the same plane as the fingers. The radius, ulna, clavicle, and scapula may be abnormal. Although many types of congenital heart disease have been reported, the most common one is an atrial septal defect. Inheritance is in an autosomal dominant manner.Marfan's Syndrome.—The thumb sign occurs because of the hyperextensibility ofthe joints. The hand is large, and fingers are gracile. Skeletal abnormalities include long limbs, pectus deformities, kyphoscoliosis, genu recurvatum, and flat feet. The face is References 1. Rubinstein JH, Taybi H: Broad thumbs and toes and facial abnormalities . AJDC 1984;105:88-108. 2. Padfield DJ, Partington MW, Simpson NE: Rubinstein-Taybi syndrome . Arch Dis Child 1967;43:94-106.Crossref 3. Kaufman RL, Rimoin DL, McAlister WH, et al: Variable expression of the Holt-Oram syndrome . AJDC 1974;127:21-25. 4. Pyeritz RE, McKusick VA: The Marfan syndrome: Diagnosis and management . N Engl J Med 1979;300:772-777.Crossref

Journal

American Journal of Diseases of Children – American Medical Association

Published: May 1, 1985

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