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Cornelia De Lange Syndrome in Iraq

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Research Article | DOI: https://doi.org/10.31579/2690-8794/010

Cornelia De Lange Syndrome in Iraq

  • Aamir Jalal Al Mosawi 1*

1* Advisor in Pediatrics and Pediatric Psychiatry,Children Teaching Hospital of Baghdad Medical City.

*Corresponding Author: Aamir Jalal Al Mosawi, Advisor in Pediatrics and Pediatric Psychiatry,Children Teaching Hospital of Baghdad Medical City

Citation: Aamir Jalal Al Mosawi (2020) Cornelia De Lange Syndrome in Iraq, Clinical Medical Reviews and Reports 2(2): Doi: 10.31579/2690-8794/010

Copyright: © 2020 Aamir Jalal Al Mosawi l, This is an open-access article distributed under the terms of The Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Received: 13 February 2020 | Accepted: 18 February 2020 | Published: 24 February 2020

Keywords: Keywords: Cornelia de Lang syndrome, Iraq, ocular abnormalities, nystagmus, squint

Abstract

Background: Cornelia de Lange syndrome is a rare syndrome of highly variable phenotype making a spectrum ranging from classic syndrome with many cardinal features to mild condition few cardinal features. Typically patients with classic syndrome had growth and mental retardation and distinctive facial dysmorphism including thick (bushy) and / or long eyebrows commonly with synophrys, short nose with depressed or concave nasal bridge and/or upturned nasal tip , long or smooth or indistinct philtrum, thin upper lip vermilion and/or downturned corners of mouth, and low set ears. The diagnosis of the syndrome is clinical. Ocular abnormalities that can be associated with Cornelia de Lang syndrome squint, nystagmus, refractive errors, and ptosis.                    

Materials and methods: The occurrence of Cornelia de Lange syndrome has not been reported or well-documented. The first four Iraqi patients (Three boys and one girl) with Cornelia de Lange syndrome are described. The relevant literatures were reviewed with aim of determining the early documentation of the syndrome in the medical literatures.

Results: All the patients were sporadic cases and had growth retardation, severe mental retardation with significant developmental delay, thick eye brows with some degree of synophrys, short nose with depressed or concave nasal bridge, and low set ears. All the patients had normal karyotype. One male patient had all of the classical features including long  smooth and indistinct philtrum, thin upper lip vermilion, and downturned corners of mouth. The second male patient had a concave nasal bridge that becomes more obvious during crying, nystagmus and bilateral convergent squint. The third boy had milder dysmorphic features. The fourth patient was a girl who was the second of a twin. She had severe growth retardation and was hypotonic with poor head control. She also had bilateral convergent squint, refractive error, and reduction in visual acuity.

Conclusion: The first four Iraqi patients with Cornelia de Lang syndrome are reported.

Introduction

Cornelia de Lange syndrome is a rare syndrome of highly variable phenotype making a spectrum ranging from classic syndrome with many cardinal features to mild condition few cardinal features. Typically patients with classic syndrome had growth and mental retardation and distinctive facial dysmorphism including thick (bushy) and / or long eyebrows commonly with synophrys, short nose with depressed or concave nasal bridge and/or upturned nasal tip , long or smooth or indistinct philtrum, thin upper lip vermilion and/or downturned corners of mouth, and low set ears. The diagnosis of the syndrome is clinical [1-6].Ocular abnormalities that can be associated with Cornelia de Lang syndrome squint, nystagmus, refractive errors, and ptosis. The majority of cases are thought to be caused by spontaneous genetic mutations [7-11].

Materials and Methods

The occurrence of Cornelia de Lange syndrome has not been reported or well-documented. The first four Iraqi patients (Two boys and one girl) with Cornelia de Lange syndrome are described. The relevant literatures were reviewed with aim of determining the early documentation of the syndrome in the medical literatures.

Results

All the patients were sporadic cases and had growth retardation, severe mental retardation with significant developmental delay, thick eye brows with some degree of synophrys, short nose with depressed or concave nasal bridge, and low set ears. All the patients had normal karyotype. The first patient (Figure-1) was a boy who was first seen at the age of ten months and had all of the classical features including long  smooth and indistinct philtrum, thin upper lip vermilion, and downturned corners of mouth. The second patient (Figure-2) was a three-year old boy who had a concave nasal bridge that becomes more obvious during crying, nystagmus and bilateral convergent squint. The third boy had milder dysmorphic features with thick eyebrows, hypertichosis, long philtrum,   low set ears.   (Figure-3). The fourth patient (Figure-4) was a girl who was the second of  a twin. She was first seen at about 16 months of age and she had severe growth retardation and was hypotonic with poor head control. She also had bilateral convergent squint, refractive error, and reduction in visual acuity. Her twin sister (Figure-5) had significant developmental delay, but she didn’t have the characteristic facial features of Cornelia de Lang syndrome.

Literature review revealed that during four decades (1930s, 1940s, 1950s, 1960s), about 130 cases of Cornelia syndrome were reported in the medical literature.

Figure-1: The first patient was a boy who was first seen at the age of ten months and had all of the classical features including long smooth and indistinct philtrum, thin upper lip vermilion, and downturned corners of mouth.
Figure-2: The second patient was a three-year old boy who had a concave nasal bridge that becomes more obvious during crying, nystagmus, and bilateral convergent squint.
Figure-3: The third boy had milder dysmorphic features with thick eyebrows, hypertichosis, long philtrum, low set ears.
Figure-4: The third patient was a girl who was the second of a twin. She was first seen at about 16 months of age and she had severe growth retardation and was hypotonic with poor head control. She also had bilateral convergent squint.
Figure-5: The twin sister of the third patient had significant developmental delay, but she didn’t have the characteristic facial features of Cornelia de Lang syndrome.

Discussion

The syndrome was named after Dutch pediatrician Cornelia Catharina de Lange [Figure-6], who described two patients  in 1933, and in1938, she reported the autopsy findings of her first patient, and described  a third patient [1,2].McArthur RG, Edwards (1967) estimated that 69 cases, including nine autopsies, have been reported in the literature and reported an other 20 patients with the syndrome [4].

Thereafter, about 41 case of the syndrome were reported during the 1960s, including the cases reported by Crisalli and colleagues,1967;Lee and Kenny,1967; Marsella,1967; Huang, et al,1967 (Two cases); Ganassi, et al,1968(Two cases); Stånescu and colleagues,1968; Beer and colleagues,1968(Two cases); Hillman, et al,1968; Familant, 1968; Calò and colleagues,1968 (Four cases); Li Moli, 1968 (Two cases); Klosovskiĭ, et al (1968); Bartsocas and colleagues,1968;Kaplan,1968; Ferenczy and colleagues,1968; Broholm and colleagues,1968; Calò and colleagues,1968; Szczepański (1969); Koike, et al (1969); Pelc and colleagues,1969; Kondo and colleagues,1969 (Two cases); Okita  and colleagues,1969; Boon, 1969; Fazekas and Nagy, 1969; Jacoby and Bonham, 1969; France and colleagues,1969; Cherington and colleagues,1969; Feldioreanu, et al, 1969; Pashayan, et al, 1969 (Three cases); Say and colleagues,1969;De Tomasi and Catapano,1969 [12-44].

Figure-6: A sketch of a Dutch pioneer of pediatrics, Cornelia Catharina de Lange

During four decades (1930s, 1940s, 1950s, 1960s), about 130 cases of Cornelia syndrome were reported in the medical literature.

Conclusion

The first three Iraqi patients with Cornelia de Lang syndrome are reported.

Acknowledgement

The author would to express his gratitude for the parents of the patients who accepted publishing their photos.

References

  1. De Lange C. (1933) Sur un type nouveau de degeneration (Typus Amstelodamensis). Arch Med Enf; 36: 713.
    View at Publisher | View at Google Scholar
  2. De Lange C.( 1938) Nouvelle observation du
    View at Publisher | View at Google Scholar
  3. Gibson R.(1964) The De Lange syndrome: report of three cases. Can Med Assoc J  Sep 19;91:643-666.
    View at Publisher | View at Google Scholar
  4. McArthur RG, Edwards JH.(1967) De Lange syndrome: report of 20 cases. Can Med Assoc J  Apr 29;96(17):1185-1198.
    View at Publisher | View at Google Scholar
  5. Basel-Vanagaite L, Wolf L, Orin M, Larizza L,  Gervasini C,  et al (2016) Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. Clinical Genetics   89 (5): 557-563.
    View at Publisher | View at Google Scholar
  6. -Liu J, Krantz ID. (2009) Bushy Syndrome, cohesin, and beyond. Clin. Genet;76 (4): 303-14.
    View at Publisher | View at Google Scholar
  7. Levin AV, Seidman DJ, Nelson LB, Jackson LG. (1990)Ophthalmologic findings in the Cornelia de Lange syndrome. J Pediatr Ophthalmol Strabismus  Mar-Apr;27(2):94-102.
    View at Publisher | View at Google Scholar
  8. Sielicka D, Mrugacz M, Bakunowicz-Łazarczyk A, Sredzińska-KitaD (2009) Ophthalmologic findings in child in the Cornelia de Lange syndrome. Klin Oczna; 111(10-12):348-399.
    View at Publisher | View at Google Scholar
  9. Shi A, Levin AV.( 2019 ) Ophthalmologic findings in the Cornelia de Lange syndrome. Ophthalmic Genet Feb;40(1):1-6.
    View at Publisher | View at Google Scholar
  10. 10-Levin AV, Seidman DJ, Nelson LB, Jackson LG.( 1990) Ophthalmologic findings in the Cornelia de Lange syndrome. J Pediatr Ophthalmol Strabismus  Mar-Apr;27(2):94-102.
    View at Publisher | View at Google Scholar
  11. Kim WJ.(2019) Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome. Yeungnam Univ J Med May;36(2):152-154.
    View at Publisher | View at Google Scholar
  12. Crisalli M, Castellani R, Monteverde R.(1967)
    View at Publisher | View at Google Scholar
  13. Lee FA, Kenny FM.(1967) Skeletal changes in the Cornelia de Lange syndrome. Am J Roentgenol Radium Ther Nucl Med  May;100(1):27-39.
    View at Publisher | View at Google Scholar
  14. Marsella A.(1967) The
    View at Publisher | View at Google Scholar
  15. Huang CC, Emanuel I, Huang SW, Chen TY.( 1967) Two cases of the de Lange syndrome in Chinese infants. J Pediatr  Aug;71(2):251-4
    View at Publisher | View at Google Scholar
  16. Rechlin R. (1967) Cornelis de Lange syndrome with subacute glomerulonephritis. Kinderarztl Prax  Sep;35(9):405-409.
    View at Publisher | View at Google Scholar
  17. Hall B, Dahlqvist A.(1967) Enzyme activity in de Lange's syndrome. Lancet. Dec 16;2(7529):1311.
    View at Publisher | View at Google Scholar
  18. Ganassi A, Scorza PA, Berni M, Sini S, Tsepeti C, et al (1968) De Lange syndrome. (Anatomo-clinical and histopathologic study of 2 cases). Clin Pediatr (Bologna) Jan;50(1):61-99.
    View at Publisher | View at Google Scholar
  19. Stånescu V, Bona C, Ionescu V. (1968) Histochemical and cytoenzymological studies on the growing cartilage in de Lange syndrome. Acta Histochem;30(1): 118.
    View at Publisher | View at Google Scholar
  20. Beer S, Wallis K, Czerniak P. (1968) Two cases of De Lange's syndrome (typus degenerativus amstelodamensis). J Ment Defic Res  Jun;12(2):128-137.
    View at Publisher | View at Google Scholar
  21. Hillman JC, Hammond J, Noé O, Reiss M.( 1968 ) Endocrine investigations in De Lange's and Seckel's syndromes. Am J Ment Defic Jul;73(1):30-3.
    View at Publisher | View at Google Scholar
  22. Familant JW.(1968) Cornelia de Lange syndrome. A second case is reported in the Negro. Clin Pediatr (Phila) Jul;7(7):411-415.
    View at Publisher | View at Google Scholar
  23. Calò S, Radice C, Conconi G. (1968) 4 cases of Cornelia De Lange syndrome (tipus degenerativus Amstelodamensis). Riv Clin Pediatr  Jul-Aug;81(4):388 397.
    View at Publisher | View at Google Scholar
  24. Li Moli S. (1968) Cornelia De Lange syndrome. Clinical contribution of 2 cases. Riv Clin Pediatr  Jul-Aug;81(4):361-377.
    View at Publisher | View at Google Scholar
  25. Klosovskiĭ BN, Iankova MF, Fateeva EM, Damanskaia LIu.(1968) On the problem of the De Lange's syndrome. Pediatriia  Aug;47(8):33-39.
    View at Publisher | View at Google Scholar
  26. Bartsocas CS, Crawford JD, Littlefield JW. (1968) Immunoglobulins in De Lange syndrome. Lancet  Sep 28;2(7570):733-744.
    View at Publisher | View at Google Scholar
  27. Kaplan B. The Brachmann (1968) De Lange syndrome: a case report. S Afr Med J Oct 26;42(41):1118-1119.
    View at Publisher | View at Google Scholar
  28. Ferenczy I, Hervei S, Goldschmidt B.( Cornelia de Lange syndrome. Orv Hetil. 1968 Oct 6;109(40):2205-2207.
    View at Publisher | View at Google Scholar
  29. Broholm KA, Eeg-Olofsson O, Hall B. (1968 ) An inherited chromosome aberration in a girl with signs of de Lange syndrome. Acta Paediatr Scand Nov; 57(6):547-52. PMID: 5706372.
    View at Publisher | View at Google Scholar
  30. Calò S, Gualandri W, Radice C. XY-XO mosaicism in a case of Cornelia De Lange syndrome].Minerva Pediatr 1968 Dec 15;20(50):2600-26004.
    View at Publisher | View at Google Scholar
  31. Szczepański Z, Sliwa F.( 1969) A case of de Lange's syndrome. Wiad Lek  Jan 15;22(2):169-172.
    View at Publisher | View at Google Scholar
  32. Koike K, Baba K, Kanaya M, Horita T, Yamada T. (1969) Autopsy case of Cornelia de Lange syndrome and bibliographical considerations. Nihon Shonika Gakkai Zasshi  Jan 1;73(1):10-24.
    View at Publisher | View at Google Scholar
  33. Pelc S, Bollaert A, Cremer N.(1969) Typus regenerativus amsteldamensis. Radiologic and pneumoencephalographic study. Ann Radiol (Paris);12(11):903-914.
    View at Publisher | View at Google Scholar
  34. Kondo K, Terao T, Tomisawa T. (1969) 2 Cases of Cornelia de Lange syndrome. Nihon Shonika Gakkai Zasshi Feb 1; 73(2):144-51
    View at Publisher | View at Google Scholar
  35. Okita K, Tsuyuki M, Kitamura Y. (1969 ) Case of Cornelia de Lange syndrome. Hifuka Kiyo. Feb;64(1):9-14.
    View at Publisher | View at Google Scholar
  36. Boon WH. (1969 )The Cornelia de Lange syndrome in Singapore. J Singapore Paediatr Soc Apr;11(1):25-37.
    View at Publisher | View at Google Scholar
  37. Fazekas A, Nagy M.(1969) Contribution to the Cornelia de Lange syndrome. Orv Hetil  May;110(19):1085-1057.
    View at Publisher | View at Google Scholar
  38. Jacoby GW, Bonham RD.( 1969) De Lange's Amsterdam Syndrome: a case report. Ohio State Med J. May;65(5):497-500.
    View at Publisher | View at Google Scholar
  39. France NE, Crome L, Abraham JM. (1969) Pathological features in the de Lange syndrome. Acta Paediatr Scand. Sep;58(5):470-480.
    View at Publisher | View at Google Scholar
  40.  Cherington M, Ott JE, Robinson A.(1969) Cornelia de Lange syndrome in an adult male. Neurology. Sep;19(9):879-84.
    View at Publisher | View at Google Scholar
  41. Feldioreanu T, Olariu-Ungureanu A, Haimovici-Mancoci M, Tâcu V. (1969 ) “The Cornelia de Lange syndrome. Pediatria (Bucur). Sep-Oct;18(5):441-445.
    View at Publisher | View at Google Scholar
  42. Pashayan H, Whelan D, Guttman S, Fraser FC. (1969) Variability of the de Lange syndrome: report of 3 cases and genetic analysis of 54 families. J Pediatric Nov;75(5):853-858.
    View at Publisher | View at Google Scholar
  43. Say B, Balci S, Atasu M. (1969 ) Cornelia de Lange syndrome. Turk J Pediatr Oct; 11(4): 166-180
    View at Publisher | View at Google Scholar
  44. De Tomasi A, Catapano B.(1969) A case of Brachmann-de Lange syndrome (Amsterdam dwarfism). Dental considerations. Riv Ital Stomatol Nov;24(11):1204-14.
    View at Publisher | View at Google Scholar
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