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June 1971, Vol 121, No. 6 >
Article | June 1971

Holt-Oram Syndrome Associated With Ectromelia and Chromosomal Aberrations FREE

Maria Rybak, MD; Kazimierz Kozłowski, MD; Alicja Kleczkowska, MD; Janina Lewandowska, MD; Jerry Sokołowski, MD; Ewa Sołtysik-Wilk, MD
[+] Author Affiliations

Received for publication March 30, 1970.

Reprint requests to the IInd Pediatric Clinic, Institute of Pediatrics, Medical Academy, Cracow, Poland (Dr. Rybak).


Am J Dis Child. 1971;121(6):490-495. doi:10.1001/archpedi.1971.02100170072008.
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We observed three siblings with ectromelia of the upper extremities and the HoltOram syndrome. Manifestations of this syndrome were present in nine persons in four generations of the family. Partial deletion of the long arm of a B group chromosome was found in two siblings. The abnormal length of the B group chromosomes in one child and the father could be estimated only after measurements. These changes may be derived from a different degree of spiralization of the paired chromosomes, but they may be caused by a loss of chromatin. The osseous anomalies in our patients are probably related to the chromosomal structural changes.

REFERENCES

1 +
Althoss H:  Röntgendiagnostik der Skeletterkrankungen , in Diethelm L, et al: Handbuch der Medizinischen Radiologie . Berlin Springer-Verlag, 1968;.
2 +
Weicher H:  Das Sogenante Dysmelie Syndrom Thalidomid Embryopathie und seine Differentialdiagnose . Wien Med Wschr 117:387, 1967;.
3 +
Taussig HB:  Thalidomide and Phocomelia . Pediatrics 30:654-659, 1962;.
4 +
Taussig HB:  A study of the German outbreak of phocomelia . JAMA 180:1106, 1962;.
5 +
Holt M, Oram S:  Familial heart disease with skeletal malformations . Brit Heart J 22:236-242, 1960;.
6 +
Kozłowski K, Januś S, Popczyńska-Merkowa M:  Zespół Holt-Orama 11-letniej dziewczynki połowiczym niedorozwojem ciała . Pediat Pol 45:221-227, 1970;.
7 +
Bakunowa F, Urban M:  Wrodzona wada serca i nieprawidłowy rozwój kończyn górnych (zespół Holta-Orama) . Pediat Pol 44:865, 1969;.
8 +
 Picture of the month: Holt-Oram syndrome . Amer J Dis Child 112:466-467, 1966;.
9 +
Pruzański W:  Familial congenital malformations of the heart and the upper limbs: A syndrome of Holt-Oram . Cardiologia 45:21, 1964;.
10 +
Pouillaude JM, Sellem C, Peuch P, et al:  Le syndrome de Holt-Oram . Ann Pediat 16:248-254, 1969;.
11 +
Moorhead PS, Nowell PC, Mellman WJ, et al:  Chromosome preparation of leukocytes cultured from human peripheral blood . Exp Cell Res 20:613-616, 1960;.
12 +
Chicago Conference:  Standardization in Human Cytogenetics . Birth Defects—Original Article Series 2:1-21, 1966;.
13 +
Gall JC Jr, Stern AM, Cohen MM, et al:  Holt-Oram syndrome: Clinical and genetic study of a large family . Amer J Hum Genet 18:187-200, 1966;.
14 +
Ockey CH, Feldman GV, Macaulay ME, et al:  A large deletion of the long arm of chromosome No 4 in a child with limb abnormalities . Arch Dis Child 42:428-434, 1967;.
15 +
Emerit J, de Grouchy J, Laval-Jeantet M, et al:  Malformations complexes des membres supérieurs associées à une cardiopathie congénitale: A propos de six observations . Acta Genet Med Gemellol 14:132-163, 1965;.
16 +
Emerit J, Vernant P, Corone P:  Les dermatoglyphes des malades porteurs d'une cardiopathie congénitale . Acta Genet Med Gemellol 17:523-537, 1968;.
17 +
Sáuchez Cascos A:  Finger print patterns in congenital heart disease . Brit Heart J 26:524-527, 1964;.
18 +
Weninger M, Kaindl F, Rotheubuchner G, et al:  Hautleistenuntersuchungen bei angeborenen Missbildungen des Herzens und der grossen Gefässe . Wien Klin Wschr 78:905-906, 1966;.
19 +
Hale AR, Phillips JH, Burch GE:  Features of palmar dermatoglyphics in congenital heart diseases: Report on variations frequently associated with congenital lesions of heart . JAMA 176:41-45, 1961;.
20 +
Sailer K, Glowatzki G:  Kongenitale Herzfehler und Hautleisten system . Med Klin 62:1458-1460, 1967;.
21 +
Sáuchez Cascos A:  Palm-print pattern in congenital heart disease . Brit Heart J 27:599-603, 1965;.
22 +
Takashina T, Yorituji S:  Palmar dermatoglyphics in heart disease . JAMA 197:689-692, 1966;.

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References

1 +
Althoss H:  Röntgendiagnostik der Skeletterkrankungen , in Diethelm L, et al: Handbuch der Medizinischen Radiologie . Berlin Springer-Verlag, 1968;.
2 +
Weicher H:  Das Sogenante Dysmelie Syndrom Thalidomid Embryopathie und seine Differentialdiagnose . Wien Med Wschr 117:387, 1967;.
3 +
Taussig HB:  Thalidomide and Phocomelia . Pediatrics 30:654-659, 1962;.
4 +
Taussig HB:  A study of the German outbreak of phocomelia . JAMA 180:1106, 1962;.
5 +
Holt M, Oram S:  Familial heart disease with skeletal malformations . Brit Heart J 22:236-242, 1960;.
6 +
Kozłowski K, Januś S, Popczyńska-Merkowa M:  Zespół Holt-Orama 11-letniej dziewczynki połowiczym niedorozwojem ciała . Pediat Pol 45:221-227, 1970;.
7 +
Bakunowa F, Urban M:  Wrodzona wada serca i nieprawidłowy rozwój kończyn górnych (zespół Holta-Orama) . Pediat Pol 44:865, 1969;.
8 +
 Picture of the month: Holt-Oram syndrome . Amer J Dis Child 112:466-467, 1966;.
9 +
Pruzański W:  Familial congenital malformations of the heart and the upper limbs: A syndrome of Holt-Oram . Cardiologia 45:21, 1964;.
10 +
Pouillaude JM, Sellem C, Peuch P, et al:  Le syndrome de Holt-Oram . Ann Pediat 16:248-254, 1969;.
11 +
Moorhead PS, Nowell PC, Mellman WJ, et al:  Chromosome preparation of leukocytes cultured from human peripheral blood . Exp Cell Res 20:613-616, 1960;.
12 +
Chicago Conference:  Standardization in Human Cytogenetics . Birth Defects—Original Article Series 2:1-21, 1966;.
13 +
Gall JC Jr, Stern AM, Cohen MM, et al:  Holt-Oram syndrome: Clinical and genetic study of a large family . Amer J Hum Genet 18:187-200, 1966;.
14 +
Ockey CH, Feldman GV, Macaulay ME, et al:  A large deletion of the long arm of chromosome No 4 in a child with limb abnormalities . Arch Dis Child 42:428-434, 1967;.
15 +
Emerit J, de Grouchy J, Laval-Jeantet M, et al:  Malformations complexes des membres supérieurs associées à une cardiopathie congénitale: A propos de six observations . Acta Genet Med Gemellol 14:132-163, 1965;.
16 +
Emerit J, Vernant P, Corone P:  Les dermatoglyphes des malades porteurs d'une cardiopathie congénitale . Acta Genet Med Gemellol 17:523-537, 1968;.
17 +
Sáuchez Cascos A:  Finger print patterns in congenital heart disease . Brit Heart J 26:524-527, 1964;.
18 +
Weninger M, Kaindl F, Rotheubuchner G, et al:  Hautleistenuntersuchungen bei angeborenen Missbildungen des Herzens und der grossen Gefässe . Wien Klin Wschr 78:905-906, 1966;.
19 +
Hale AR, Phillips JH, Burch GE:  Features of palmar dermatoglyphics in congenital heart diseases: Report on variations frequently associated with congenital lesions of heart . JAMA 176:41-45, 1961;.
20 +
Sailer K, Glowatzki G:  Kongenitale Herzfehler und Hautleisten system . Med Klin 62:1458-1460, 1967;.
21 +
Sáuchez Cascos A:  Palm-print pattern in congenital heart disease . Brit Heart J 27:599-603, 1965;.
22 +
Takashina T, Yorituji S:  Palmar dermatoglyphics in heart disease . JAMA 197:689-692, 1966;.

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