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Generalized Overconstriction of Long Bones and Unilateral Kirner's Deformity in a deLange Dwarf FREE

Fred A. Lee, MD
[+] Author Affiliations

Received for publication March 18, 1968.

Reprint requests to Childrens Hospital of Los Angeles, 4650 Sunset Blvd, Los Angeles 90027.


Am J Dis Child. 1968;116(6):599-603. doi:10.1001/archpedi.1968.02100020603005.
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THE Cornelia deLange syndrome (CD LS) is a distinctive clinical entity characterized by severe growth, mental and motor retardation, a characteristic appearance, and multiple associated anomalies including deformities of the skeleton. Described by Cornelia deLange1 in 1931, it did not receive attention in this country until 1962 when the first reference in an English language publication appeared.2 Since then, increasing numbers of cases have been reported, including a series of 20 cases from one institution alone.3

We4 recently described the radiographic findings in skeletal surveys of six CDL dwarfs. Gerald and Umansky,5 and Kurlander and DeMyer6 similarly reported the skeletal changes in seven other cases. In summary, the major skeletal abnormalities are of the upper extremity, and range in severity from phocomelia and hemimelia to minor hand defects. The most consistent changes have been hypoplasia of the first metacarpal bone, clinodactyly of the fifth finger, and hypoplasia and subluxation

REFERENCES

deLange, C.:  Sur un Type Nouveau de Dégénération: (Typus Amstelodamensis) , Arch Med Enfants 36:713-719 ( (Dec) ) 1933;.
Ishmael, J., and Laurence, K.M.:  Chromosomes in Case of Typus Degenerativus Amstelodamensis , Human Chromosome Newsletter 7:3 ( (Aug) ) 1962;.
McArthur, R.G., and Edwards, J.H.:  DeLange Syndrome: Report of 20 Cases , Canad Med Assoc J 96:1185-1198 ( (April 29) ) 1967;.
Lee, F.A., and Kenny, F.M.:  Skeletal Changes in the Cornelia deLange Syndrome , Amer J Roentgen 100:27-39 ( (May) ) 1967;.
Gerald, B., and Umansky, R.:  The Cornelia deLange Syndrome: Radiographic Findings , Radiology 88:96-100 ( (Jan) ) 1967;.
Kurlander, G.J., and DeMyer, W.:  Roentgenology of the Brachmann-deLange Syndrome , Radiology 88:101-110 ( (Jan) ) 1967;.
Jervis, G.A., and Stimson, C.W.:  DeLange Syndrome "Amsterdam type" of Mental Defect With Congenital Malformation , J Pediat 63:634-645 ( (Oct) ) 1963;.
Opitz, J.M., et al: Etiology of Brachmann-deLange Syndrome , National Foundation Birth Defects Reprint Series, No. 16, (March) 1966;, pp 22-23.
Schlesinger, B., et al:  Typus Degenerativus Amstelodamensis , Arch Dis Child 38:349-357 ( (Aug) ) 1963;.
Silver, H.K.:  DeLange Syndrome: Typus Amstelodamensis , Amer J Dis Child 108:523-529 ( (Nov) ) 1964;.
Kirner, J.:  Doppelseitige Verkrümmungen des Kleinfingerendgliedes als Selbständiges Krankheitsbild , Fortschr Rontgenstr 36:804-806 ( (Oct) ) 1927;.
Moseley, J.E.; Moloshok, R.E.; and Freiberger, R.H.:  The Silver Syndrome: Congenital Asymmetry, Short Stature, and Variations in Sexual Development: Roentgen Features , Amer J Roentgen 97:74-81 ( (May) ) 1966;.
Kurlander, G.J.; Lavy, N.W.; and Campbell, J.A.:  Roentgen Differentiation of the Oculodentodigital Syndrome and the Hallerman-Streiff Syndrome in Infancy , Radiology 86:77-86 ( (Jan) ) 1966;.
Houston, C.S.:  Roentgen Findings in the XXXXY Chromosome Anomaly , J Canad Assoc Radiol 18:258-267 ( (March) ) 1967;.
Caffey, J.:  Congenital Stenosis of Medullary Spaces in Tubular Bones and Calvaria in Two Proportionate Dwarfs—Mother and Son; Coupled With Transitory Hypocalcemic Tetany , Amer J Roentgen 100:1-11 ( (May) ) 1967;.
Kenny, F.M., and Linarelli, L.:  Dwarfism and Cortical Thickening of Tubular Bones , Amer J Dis Child 111:201-207 ( (Feb) ) 1966;.

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References

deLange, C.:  Sur un Type Nouveau de Dégénération: (Typus Amstelodamensis) , Arch Med Enfants 36:713-719 ( (Dec) ) 1933;.
Ishmael, J., and Laurence, K.M.:  Chromosomes in Case of Typus Degenerativus Amstelodamensis , Human Chromosome Newsletter 7:3 ( (Aug) ) 1962;.
McArthur, R.G., and Edwards, J.H.:  DeLange Syndrome: Report of 20 Cases , Canad Med Assoc J 96:1185-1198 ( (April 29) ) 1967;.
Lee, F.A., and Kenny, F.M.:  Skeletal Changes in the Cornelia deLange Syndrome , Amer J Roentgen 100:27-39 ( (May) ) 1967;.
Gerald, B., and Umansky, R.:  The Cornelia deLange Syndrome: Radiographic Findings , Radiology 88:96-100 ( (Jan) ) 1967;.
Kurlander, G.J., and DeMyer, W.:  Roentgenology of the Brachmann-deLange Syndrome , Radiology 88:101-110 ( (Jan) ) 1967;.
Jervis, G.A., and Stimson, C.W.:  DeLange Syndrome "Amsterdam type" of Mental Defect With Congenital Malformation , J Pediat 63:634-645 ( (Oct) ) 1963;.
Opitz, J.M., et al: Etiology of Brachmann-deLange Syndrome , National Foundation Birth Defects Reprint Series, No. 16, (March) 1966;, pp 22-23.
Schlesinger, B., et al:  Typus Degenerativus Amstelodamensis , Arch Dis Child 38:349-357 ( (Aug) ) 1963;.
Silver, H.K.:  DeLange Syndrome: Typus Amstelodamensis , Amer J Dis Child 108:523-529 ( (Nov) ) 1964;.
Kirner, J.:  Doppelseitige Verkrümmungen des Kleinfingerendgliedes als Selbständiges Krankheitsbild , Fortschr Rontgenstr 36:804-806 ( (Oct) ) 1927;.
Moseley, J.E.; Moloshok, R.E.; and Freiberger, R.H.:  The Silver Syndrome: Congenital Asymmetry, Short Stature, and Variations in Sexual Development: Roentgen Features , Amer J Roentgen 97:74-81 ( (May) ) 1966;.
Kurlander, G.J.; Lavy, N.W.; and Campbell, J.A.:  Roentgen Differentiation of the Oculodentodigital Syndrome and the Hallerman-Streiff Syndrome in Infancy , Radiology 86:77-86 ( (Jan) ) 1966;.
Houston, C.S.:  Roentgen Findings in the XXXXY Chromosome Anomaly , J Canad Assoc Radiol 18:258-267 ( (March) ) 1967;.
Caffey, J.:  Congenital Stenosis of Medullary Spaces in Tubular Bones and Calvaria in Two Proportionate Dwarfs—Mother and Son; Coupled With Transitory Hypocalcemic Tetany , Amer J Roentgen 100:1-11 ( (May) ) 1967;.
Kenny, F.M., and Linarelli, L.:  Dwarfism and Cortical Thickening of Tubular Bones , Amer J Dis Child 111:201-207 ( (Feb) ) 1966;.

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