0
Article |

Reduction Malformations and Chromosome Anomalies FREE

Mary K. Bofinger, MD; Peter St. J. Dignan, MD; Rosemary E. Schmidt, MD; Josef Warkany, MD
[+] Author Affiliations

Received for publication June 20, 1972; accepted Aug 21.

Reprint requests to Elland and Bethesda Ave, Cincinnati 45229 (Dr. Warkany).


Am J Dis Child. 1973;125(1):135-143. doi:10.1001/archpedi.1973.04160010095024.
Text Size: A A A
Published online

Three infants were born with serious limb defects (reduction malformations) and chromosomal anomalies. Other cases of skeletal malformations of the extremities that are associated with cytogenetic changes have been previously reported. The chromosomal anomaly usually is betrayed by associated malformations rather than by the type of limb defect. The recognition of the cytogenetic basis of limb malformation is of importance because it may influence the individual prognosis and genetic counseling.

REFERENCES

Ballantyne JW: Manual of Antenatal Pathology and Hygiene. The Embryo . Edinburgh, W Green & Sons, 1904;.
Watkinson:  Case of a foetus in which the left foot was separated from the leg during utero-gestation . Lond Med Phys J 54:38, 1825;.
Hornsby W:  Intrauterine amputation of left leg . Br Med J 1:865-866, 1926;.
Streeter GL:  The significance of morbid processes in the fetus , in The Harvey Lectures , Series 29. Baltimore, Williams & Wilkins, 1933-1934;, pp 204-219.
Schwarzweller F:  Ein Beitrag zur Genese und Systematik der Gliedmassenmissbildungen . Arch Orthop Unfallchir 39:400-419, 1938;.
Glessner JR Jr:  Spontaneous intrauterine amputation . J Bone Joint Surg (Am) 45:351-355, 1963;.
Torpin R: Fetal Malformations Caused by Amnion Rupture During Gestation . Springfield, Ill, Charles C Thomas Publishers, 1968;.
Freire-Maia N, et al:  Hereditary bone aplasias and hypoplasias of the upper extremities . Acta Genet 9:33-40, 1959;.
Lenz W, in discussion, Pfeiffer RA, Kosenow K:  Zur Frage der exogenen Entstehung schwerer Extremitätenmissbildungen . Tagung der Rheinisch-Westfalischen Kinderärzteverinigung in Düsseldorf 19:11, 1961;.
McBride WG:  Thalidomide and congenital abnormalities , Lancet 2:1358, 1961;.
Carter R, Baker E, Haywan D:  Congenital malformations associated with a ring 4 chromosome . J Med Genet 6:224-227, 1969;.
Dallaire L:  Ring B chromosome in a female with multiple skeletal anomalies . Birth Defects 5:114-116, 1969;.
Faed M, Steward A, Keay AJ:  Chromosome abnormalities in two cases with bilateral radial element defects . J Med Genet 6:342-346, 1969;.
Ochey CH, et al:  A large deletion of long arm of chromosome number 4 in a child with limb abnormalities . Arch Dis Child 42:428-434, 1967;.
Rybak M, et al:  Holt-Oram syndrome associated with ectromelia and chromosomal aberrations , Am J Dis Child 121:490-500, 1971;.
Lindenbaum RH, Butler LJ:  Child with multiple anomalies and a group B (4-5) long arm deletion (Bq—) 46,XY,Bq— . Arch Dis Child 46:99-101, 1971;.
Hecht F:  Ring-4 chromosome: Ring autosomes, Lorelei of clinical-karyotype correlation and deletion mapping . Birth Defects 5:106-113, 1969;.
Bobrow M, Jones L, Clarke G:  A complex chromosomal rearrangement with formation of a ring 4 . J Med Genet 8:235-239, 1971;.
Surana RB, Bailey JD, Conen PE:  A ring-4 chromosome in a patient with normal intelligence and short stature . J Med Genet 8:517-521, 1971;.
Rohde RA, Tompkins R:  'Cri-duchat' due to a ring-B (5) chromosome . Lancet 2:1075-1076, 1965;.
Steele MW, et al:  A B-group ring chromosome with mosaicism in a newborn with cri du chat syndrome . Cytogenetics 5:419-429, 1966;.
Lin-Fu JS: The Cat Cry Syndrome , publication Fs 14.102:C 28. Dept of Health, Education, and Welfare, 1965;.
Taylor AI:  Patau's, Edwards' and cri du chat syndromes: A tabulated summary of current findings . Dev Med Child Neurol 9:78-86, 1967;.
Breg WR, et al:  The cri du chat syndrome in adolescents, and adults: Clinical findings in 13 older patients with partial deletion of the short arm of chromosome No. 5 (5p—) . J Pediatr 77:782-791, 1970;.
Guthrie RD, et al:  The 4p— syndrome . Am J Dis Child 122:421-425, 1970;.
Bargman GJ, et al:  Trisomy C mosaicism in a seven month old girl . Humangenetik 4:13-17, 1967;.
Gustavson KH, Haberg B, Santesson B:  Mosaic trisomy of an autosome in the 6-12 group in a patient with multiple congenital anomalies . Acta Paediatr Scand 56:681-682, 1967;.
Prats J, Moragas A:  Structural chromosome anomaly in a case of multiple malformation . Helv Paediatr Acta 22:565-571, 1967;.
Juberg RC, Gilbert EF, Salisbury RS:  Trisomy C in an infant with polycystic kidneys and other malformations . J Pediatr 76:598-603, 1970;.
Nakagome Y, Warkany J, Rubingic, WB stein JH:  Mental retardation, absence of patellae, and other malformations with chromosomal mosaicism: A follow-up report . J Pediatr 72:695-697, 1968;.
Riccardi VM, Atkins L, Holmes LB:  Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism . J Pediatr 77:664-672, 1970;.
Pfeiffer RA:  Balanced autosomal translocation C/D . Hum Chrom Newsletter 19:31, 1966;.
Smith DW: Recognizable Patterns of Human Malformation: Genetic, Embryologic, and Clinical Aspects . Philadelphia, WB Saunders Co, 1970;.
Craig AP, Luzzatti L:  Translocation in de Lange's syndrome? Lancet 2:445-446, 1965;.
Berg JM, et al:  DeLange syndrome: Report of a case with an unusual karyotype . J Med Genet 4:184-189, 1967;.
Dodson WE, et al:  Acrocephalosyndactylia associated with a chromosomal translocation . Am J Dis Child 120:360-362, 1970;.
Orbeli DJ, Lurie IW, Goroshenko JL:  The syndrome associated with partial D-monosomy: Case report and review . Humangenetik 13:296-308, 1971;.
Opitz JM, et al:  Report of a patient with a presumed Dq—syndrome . Birth Defects 5:93-99, 1969;.
Bain AD, Gauld IK:  Multiple congenital abnormalities associated with ring chromosome . Lancet 2:304-305, 1963;.
Sparkes RS, Carrell RE, Wright SW:  Absent thumbs with a ring D2 chromosome: A new deletion syndrome . Am J Hum Genet 19:644-659, 1967;.
Masterson JG, et al:  A malformation syndrome with ring D chromosome . J Ir Med Assoc 61:398-399, 1968;.
Juberg RC, et al:  Multiple congenital anomalies associated with a ring-D chromosome . J Med Genet 6:314-321, 1969;.
Laurent C, et al:  Délétion partielle du bras long d'un chromosome du groupe D(13-15):Dq— . Ann Genet 10:25-31, 1967;.
Allderdice PW, et al:  The 13q-deletion syndrome . Am J Hum Genet 21:499-512, 1969;.
Thomson H, Lyson RB:  Retinoblastoma and multiple congenital anomalies associated with complex mosaicism with deletion of D chromosome and probable D/C translocation . Hum Chrom Newsletter 15:21, 1965;.
Giraud F, et al:  Mosaique chromosomique complète: trisomie D/disomie partielle pour un grand télocentrique . Pediatrie 22:711-718, 1967;.
Butler LJ, et al:  E(16-18) trisomy syndrome: Analysis of 13 cases . Arch Dis Child 40:600-611, 1965;.
Emanuel I, et al:  Trisomy 18 syndrome in Chinese infants . J Med Genet 7:138-141, 1970;.
Oikawa K, et al:  Trisomy-17 syndrome with phocomelia due to complete and partial chromosomal trisomy . J Pediatr 63:715-717, 1963;.
Rabinowitz JG, et al:  Trisomy 18, esophageal atresia, anomalies of the radius, and congenital hypoplastic thrombocytopenia . Radiology 89:488-491, 1967;.
Voorhess ML, Aspillage MJ, Gardner LI:  Trisomy 18 syndrome with absent radius, varus deformity of hand and rudimentary thumb . J Pediatr 65:130-133, 1964;.
Weber WW:  Trisomy 17-18 (E): Studies in long term survival with report of two autopsied cases . Pediatrics 34:533-541, 1964;.
Weber FM, Sparkes RS:  Trisomy E (18) syndrome: Clinical spectrum in 12 new cases, including chromosome autoradiography in 4 . J Med Genet 7:363-366, 1970;.
Weichsel ME Jr, Luzzatti L:  Trisomy 17-18 syndrome with congenital extrahepatic biliary atresia and congenital amputation of the left foot . J Pediat 67:324-327, 1965;.
Zellweger H, Huff PS, Abbo G:  Phocomelia and trisomy E . Acta Genet Med 14:164-173, 1965;.
Schinzel A, Schmid W:  Trisomie 18 . Helv Paediatr Acta 26:673-685, 1971;.
Trowell HR, Hilton HB:  A case of trisomy 18 syndrome . Hum Chrom Newsletter 10:15, 1963;.
Gagnon J, et al:  Trisomie partielle 18 par insertion ou translocation 4/18 . Union Med Canada 92:311-319, 1963;.
France NE, Butler LJ:  Trisomy 18 associated with a familial translocation t(Bq-;18q + ) . Ann Genet 12:46-50, 1969;.
Kajii T, et al:  A probable 17-18 trisomy syndrome with phocomelia, exomphalos, and agenesis of hemidiaphragm . Arch Dis Child 39:519-521, 1964;.
Kajii T:  Phocomelia in trisomy-18 syndrome . Lancet 1:385-386, 1967;.
Koivikko A:  Ventriculoradial dysplasia in a mongoloid infant . Ann Clin Res 2:79-81, 1970;.
Berg JM, Crome L, France NC:  Congenital cardiac malformations in mongolism . Br Heart J 22:331-346, 1960;.
Warkany J: Congenital Malformations: Notes and Comments . Chicago, Year Book Medical Publishers, 1971;.
Penrose LS, Smith GF: Down's Anomaly . Boston, Little, Brown & Co, 1966;.
Schönenberg H, Pfeiffer R:  Gliedmassenfehlbildungen (Perodaktylie, symbrachydaktylie) bei 2 Säuglingen mit Down-syndrom . Ann Paediatr 207:172-181, 1966;.
Ingalls TH:  Pathogenesis of mongolism . Am J Dis Child 73:279-292, 1947;.
Gagnon J, Katyk-Longtin N, de Groot JA:  A case of double autosomal trisomy (21 + 18) . Hum Chrom Newsletter 5:7, 1963;.
Ferrier PE:  Turner's syndrome with hygroma colli and an unusually severe skeletal defect . Helv Paediatr Acta 25:248-252, 1970;.
Nilsson LR, Lindholm G:  Congenital thrombocytopenia associated with aplasia of the radius . Acta Pediatr 49:291-296, 1960;.
Perkins J, Timson J, Emery AE:  Clinical and chromosome studies in Fanconi's aplastic anaemia . J Med Genet 6:28-33, 1969;.
Guanti G, Petrinelli P, Schettini F:  Cytogenetical and clinical investigations in aplastic anaemia (Fanconi's type) . Humangenetik 13:222-233, 1971;.
Sprague CA, Kohnen PW, Martin GM: Sirenomelia:  Chromosomal breaks and abnormal associations in cultures from the fused lower limb . Arch Path 90:29, 1970;.

Figures

Tables

Interactive Graphics

Video

Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

Ballantyne JW: Manual of Antenatal Pathology and Hygiene. The Embryo . Edinburgh, W Green & Sons, 1904;.
Watkinson:  Case of a foetus in which the left foot was separated from the leg during utero-gestation . Lond Med Phys J 54:38, 1825;.
Hornsby W:  Intrauterine amputation of left leg . Br Med J 1:865-866, 1926;.
Streeter GL:  The significance of morbid processes in the fetus , in The Harvey Lectures , Series 29. Baltimore, Williams & Wilkins, 1933-1934;, pp 204-219.
Schwarzweller F:  Ein Beitrag zur Genese und Systematik der Gliedmassenmissbildungen . Arch Orthop Unfallchir 39:400-419, 1938;.
Glessner JR Jr:  Spontaneous intrauterine amputation . J Bone Joint Surg (Am) 45:351-355, 1963;.
Torpin R: Fetal Malformations Caused by Amnion Rupture During Gestation . Springfield, Ill, Charles C Thomas Publishers, 1968;.
Freire-Maia N, et al:  Hereditary bone aplasias and hypoplasias of the upper extremities . Acta Genet 9:33-40, 1959;.
Lenz W, in discussion, Pfeiffer RA, Kosenow K:  Zur Frage der exogenen Entstehung schwerer Extremitätenmissbildungen . Tagung der Rheinisch-Westfalischen Kinderärzteverinigung in Düsseldorf 19:11, 1961;.
McBride WG:  Thalidomide and congenital abnormalities , Lancet 2:1358, 1961;.
Carter R, Baker E, Haywan D:  Congenital malformations associated with a ring 4 chromosome . J Med Genet 6:224-227, 1969;.
Dallaire L:  Ring B chromosome in a female with multiple skeletal anomalies . Birth Defects 5:114-116, 1969;.
Faed M, Steward A, Keay AJ:  Chromosome abnormalities in two cases with bilateral radial element defects . J Med Genet 6:342-346, 1969;.
Ochey CH, et al:  A large deletion of long arm of chromosome number 4 in a child with limb abnormalities . Arch Dis Child 42:428-434, 1967;.
Rybak M, et al:  Holt-Oram syndrome associated with ectromelia and chromosomal aberrations , Am J Dis Child 121:490-500, 1971;.
Lindenbaum RH, Butler LJ:  Child with multiple anomalies and a group B (4-5) long arm deletion (Bq—) 46,XY,Bq— . Arch Dis Child 46:99-101, 1971;.
Hecht F:  Ring-4 chromosome: Ring autosomes, Lorelei of clinical-karyotype correlation and deletion mapping . Birth Defects 5:106-113, 1969;.
Bobrow M, Jones L, Clarke G:  A complex chromosomal rearrangement with formation of a ring 4 . J Med Genet 8:235-239, 1971;.
Surana RB, Bailey JD, Conen PE:  A ring-4 chromosome in a patient with normal intelligence and short stature . J Med Genet 8:517-521, 1971;.
Rohde RA, Tompkins R:  'Cri-duchat' due to a ring-B (5) chromosome . Lancet 2:1075-1076, 1965;.
Steele MW, et al:  A B-group ring chromosome with mosaicism in a newborn with cri du chat syndrome . Cytogenetics 5:419-429, 1966;.
Lin-Fu JS: The Cat Cry Syndrome , publication Fs 14.102:C 28. Dept of Health, Education, and Welfare, 1965;.
Taylor AI:  Patau's, Edwards' and cri du chat syndromes: A tabulated summary of current findings . Dev Med Child Neurol 9:78-86, 1967;.
Breg WR, et al:  The cri du chat syndrome in adolescents, and adults: Clinical findings in 13 older patients with partial deletion of the short arm of chromosome No. 5 (5p—) . J Pediatr 77:782-791, 1970;.
Guthrie RD, et al:  The 4p— syndrome . Am J Dis Child 122:421-425, 1970;.
Bargman GJ, et al:  Trisomy C mosaicism in a seven month old girl . Humangenetik 4:13-17, 1967;.
Gustavson KH, Haberg B, Santesson B:  Mosaic trisomy of an autosome in the 6-12 group in a patient with multiple congenital anomalies . Acta Paediatr Scand 56:681-682, 1967;.
Prats J, Moragas A:  Structural chromosome anomaly in a case of multiple malformation . Helv Paediatr Acta 22:565-571, 1967;.
Juberg RC, Gilbert EF, Salisbury RS:  Trisomy C in an infant with polycystic kidneys and other malformations . J Pediatr 76:598-603, 1970;.
Nakagome Y, Warkany J, Rubingic, WB stein JH:  Mental retardation, absence of patellae, and other malformations with chromosomal mosaicism: A follow-up report . J Pediatr 72:695-697, 1968;.
Riccardi VM, Atkins L, Holmes LB:  Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism . J Pediatr 77:664-672, 1970;.
Pfeiffer RA:  Balanced autosomal translocation C/D . Hum Chrom Newsletter 19:31, 1966;.
Smith DW: Recognizable Patterns of Human Malformation: Genetic, Embryologic, and Clinical Aspects . Philadelphia, WB Saunders Co, 1970;.
Craig AP, Luzzatti L:  Translocation in de Lange's syndrome? Lancet 2:445-446, 1965;.
Berg JM, et al:  DeLange syndrome: Report of a case with an unusual karyotype . J Med Genet 4:184-189, 1967;.
Dodson WE, et al:  Acrocephalosyndactylia associated with a chromosomal translocation . Am J Dis Child 120:360-362, 1970;.
Orbeli DJ, Lurie IW, Goroshenko JL:  The syndrome associated with partial D-monosomy: Case report and review . Humangenetik 13:296-308, 1971;.
Opitz JM, et al:  Report of a patient with a presumed Dq—syndrome . Birth Defects 5:93-99, 1969;.
Bain AD, Gauld IK:  Multiple congenital abnormalities associated with ring chromosome . Lancet 2:304-305, 1963;.
Sparkes RS, Carrell RE, Wright SW:  Absent thumbs with a ring D2 chromosome: A new deletion syndrome . Am J Hum Genet 19:644-659, 1967;.
Masterson JG, et al:  A malformation syndrome with ring D chromosome . J Ir Med Assoc 61:398-399, 1968;.
Juberg RC, et al:  Multiple congenital anomalies associated with a ring-D chromosome . J Med Genet 6:314-321, 1969;.
Laurent C, et al:  Délétion partielle du bras long d'un chromosome du groupe D(13-15):Dq— . Ann Genet 10:25-31, 1967;.
Allderdice PW, et al:  The 13q-deletion syndrome . Am J Hum Genet 21:499-512, 1969;.
Thomson H, Lyson RB:  Retinoblastoma and multiple congenital anomalies associated with complex mosaicism with deletion of D chromosome and probable D/C translocation . Hum Chrom Newsletter 15:21, 1965;.
Giraud F, et al:  Mosaique chromosomique complète: trisomie D/disomie partielle pour un grand télocentrique . Pediatrie 22:711-718, 1967;.
Butler LJ, et al:  E(16-18) trisomy syndrome: Analysis of 13 cases . Arch Dis Child 40:600-611, 1965;.
Emanuel I, et al:  Trisomy 18 syndrome in Chinese infants . J Med Genet 7:138-141, 1970;.
Oikawa K, et al:  Trisomy-17 syndrome with phocomelia due to complete and partial chromosomal trisomy . J Pediatr 63:715-717, 1963;.
Rabinowitz JG, et al:  Trisomy 18, esophageal atresia, anomalies of the radius, and congenital hypoplastic thrombocytopenia . Radiology 89:488-491, 1967;.
Voorhess ML, Aspillage MJ, Gardner LI:  Trisomy 18 syndrome with absent radius, varus deformity of hand and rudimentary thumb . J Pediatr 65:130-133, 1964;.
Weber WW:  Trisomy 17-18 (E): Studies in long term survival with report of two autopsied cases . Pediatrics 34:533-541, 1964;.
Weber FM, Sparkes RS:  Trisomy E (18) syndrome: Clinical spectrum in 12 new cases, including chromosome autoradiography in 4 . J Med Genet 7:363-366, 1970;.
Weichsel ME Jr, Luzzatti L:  Trisomy 17-18 syndrome with congenital extrahepatic biliary atresia and congenital amputation of the left foot . J Pediat 67:324-327, 1965;.
Zellweger H, Huff PS, Abbo G:  Phocomelia and trisomy E . Acta Genet Med 14:164-173, 1965;.
Schinzel A, Schmid W:  Trisomie 18 . Helv Paediatr Acta 26:673-685, 1971;.
Trowell HR, Hilton HB:  A case of trisomy 18 syndrome . Hum Chrom Newsletter 10:15, 1963;.
Gagnon J, et al:  Trisomie partielle 18 par insertion ou translocation 4/18 . Union Med Canada 92:311-319, 1963;.
France NE, Butler LJ:  Trisomy 18 associated with a familial translocation t(Bq-;18q + ) . Ann Genet 12:46-50, 1969;.
Kajii T, et al:  A probable 17-18 trisomy syndrome with phocomelia, exomphalos, and agenesis of hemidiaphragm . Arch Dis Child 39:519-521, 1964;.
Kajii T:  Phocomelia in trisomy-18 syndrome . Lancet 1:385-386, 1967;.
Koivikko A:  Ventriculoradial dysplasia in a mongoloid infant . Ann Clin Res 2:79-81, 1970;.
Berg JM, Crome L, France NC:  Congenital cardiac malformations in mongolism . Br Heart J 22:331-346, 1960;.
Warkany J: Congenital Malformations: Notes and Comments . Chicago, Year Book Medical Publishers, 1971;.
Penrose LS, Smith GF: Down's Anomaly . Boston, Little, Brown & Co, 1966;.
Schönenberg H, Pfeiffer R:  Gliedmassenfehlbildungen (Perodaktylie, symbrachydaktylie) bei 2 Säuglingen mit Down-syndrom . Ann Paediatr 207:172-181, 1966;.
Ingalls TH:  Pathogenesis of mongolism . Am J Dis Child 73:279-292, 1947;.
Gagnon J, Katyk-Longtin N, de Groot JA:  A case of double autosomal trisomy (21 + 18) . Hum Chrom Newsletter 5:7, 1963;.
Ferrier PE:  Turner's syndrome with hygroma colli and an unusually severe skeletal defect . Helv Paediatr Acta 25:248-252, 1970;.
Nilsson LR, Lindholm G:  Congenital thrombocytopenia associated with aplasia of the radius . Acta Pediatr 49:291-296, 1960;.
Perkins J, Timson J, Emery AE:  Clinical and chromosome studies in Fanconi's aplastic anaemia . J Med Genet 6:28-33, 1969;.
Guanti G, Petrinelli P, Schettini F:  Cytogenetical and clinical investigations in aplastic anaemia (Fanconi's type) . Humangenetik 13:222-233, 1971;.
Sprague CA, Kohnen PW, Martin GM: Sirenomelia:  Chromosomal breaks and abnormal associations in cultures from the fused lower limb . Arch Path 90:29, 1970;.

Correspondence

CME
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s “Cited By” API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment

Some tools below are only available to our subscribers or users with an online account.

Related Content

Customize your page view by dragging & repositioning the boxes below.