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CASE REPORT
Year : 2014  |  Volume : 32  |  Issue : 1  |  Page : 68-70
 

Deletion of short arm of chromosome 18, Del(18p) syndrome


1 Department of Pedodontics, Vyas Dental College, Jodhpur, Rajasthan, India
2 Department of Pediatrics, Dr. S N Medical College, Jodhpur, Rajasthan, India
3 Department of Endodontics and Conservative Dentistry, Gwalior, Madhya Pradesh, India
4 Department of Pedodontics, VSPM Dental College, Nagpur, Maharastra, India
5 Department of Prasthodontics, Rajas Dental College, Tirunelveli, Tamil Nadu, India

Date of Web Publication15-Feb-2014

Correspondence Address:
Prashant Babaji
Professor, Department of Pedodontics, Vyas Dental College, Jodhpur-342001, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.127063

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   Abstract 

Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum, craniofacial malformations including long ear, ptosis, microcephaly and short neck. This case report presents with characteristic features along with rare feature of single nostril.


Keywords: Deletion 18p syndrome, monosomy 18p, short neck, single nostril, ocular hypertelorism


How to cite this article:
Babaji P, Singh A, Lau H, Lamba G, Somasundaram P. Deletion of short arm of chromosome 18, Del(18p) syndrome. J Indian Soc Pedod Prev Dent 2014;32:68-70

How to cite this URL:
Babaji P, Singh A, Lau H, Lamba G, Somasundaram P. Deletion of short arm of chromosome 18, Del(18p) syndrome. J Indian Soc Pedod Prev Dent [serial online] 2014 [cited 2018 Dec 18];32:68-70. Available from: http://www.jisppd.com/text.asp?2014/32/1/68/127063



   Introduction Top


Deletion of the short arm of chromosome 18, Del (18p) (OMIM 146390) is a rare syndrome. Nearly 150 cases of this kind have been reported until now. It was first described by Grouchy et al. in 1963. Its estimated prevalence is 1 in every 50,000 live births and its phenotypic variability makes it difficult to recognize. Female to male ratio is 3:2 [1] and average birth weight is 2600 g. [2]


   Case Report Top


The probend is a newborn preterm female, born to a 25-year-old female, following normal gestation after a non-consanguineous marriage and was delivered at 34 weeks gestation by normal vaginal delivery following spontaneous labor and weighed 1.25 kg at birth. The patient presented with characteristic features of single nostril, hypertelorism, ptosis, down slanting eyes, microcephaly and short neck [Figure 1]. Upon clinical examination and comparing the characteristic findings, the case was diagnosed as deletion of chromosome 18p syndrome. Parents were advised and counseled about the condition. The baby was kept under regular follow-up as there were no observable signs and symptoms for immediate treatment.
Figure 1: Photograph of patient showing cebocephaly, single nostril and ocular hypertelorism

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   Discussion Top


18p syndrome is also called as monosomy 18p, 18p deletion syndrome, de Grouchy syndrome, type 1. [3] This rare syndrome characteristically presents with variable mental retardation, growth retardation, low height, pectus excavatum, craniofacial malformations including long ear, ptosis, microcephaly and short neck. [1] There are very few reported cases with alobar holoprosencephaly, single nostril as present in our case. [1],[4] The severity of holoprosencephaly varies from cyclopy to facial malformations with a central incisor. Four genes: SHH (7q36), ZIC2 (13q32), SIX3 (2p21) and TGIF are associated with holoprosencephaly. [1] Gonodal dysgenesis, menstrual and fertility disorders have been reported. [1] Other abnormalities such as blepharoptosis, mid-facial hypoplasia, flat face, hypertelorism, renal hypoplasia, cardiopathy, cebocephaly, dystonia can be observed. [1],[2] Nearly 85% of the cases have originated from a de novo deletion and less often from familial origin. [1] Mental retardation varies from mild to severe with IQ between 45 and 50. [2] Growth retardation is associated with growth hormone deficiency and responds well to hormone supplementation. [2] Affected parents can show 18p 11.2 deletion and it has been observed that women transmit unbalanced chromosome aberration more frequently than men, but Schaub et al. concluded equal parental origin of the condition. [2],[5] Maranda et al. (2006) in their study have reported a case of familial transition. [2] A study by Schaub et al. identified that in deletion of chromosome 18, the majority of the breakpoints were located between markers D18S852 on 18p and D18S1149 on 18q, a distance of approximately 4 Mb. [5]

Orofacial findings observed in this syndrome can be long philtrum, microstomy, malocclusion, dental hypoplasia, downturned corners of mouth and delayed eruption of teeth. [1],[6] Hermesch et al. (2000) observed quite similar prevalence of dental caries in genetically unaffected siblings and reported lower caries risk than previous reports. [6] [Table 1] lists out the clinical and other features observed in deletion 18p syndrome. [1],[2],[4],[5],[6] Prenatal diagnosis of this syndrome can be done through amniocentesis. [1] Chromosomal analysis and clinical examination can help in diagnosing the condition. There is a poor prognosis for those with severe brain malformations, most often they die in the newborn. There is low recurrence risk rate to siblings for those cases that arise de novo. If one of the parents is a carrier of an 18 p deletion then the risk of recurrence will be as high as 50% if the 18p deletion is present in a homogeneous state or lower if the 18p deletion is present in a mosaic state. [3] Parents should be counseled about the condition and its carrier status. Based on parental carrier status of 18p deletion further issue can be planned. If parents wish to have a child then in vitro fertilization can be advised with embryo biopsy and only healthy embryos are transferred to mother uterus to prevent transmission of 18p deletion. [8]
Table 1: Clinical features observed in deletion of the short arm of chromosome 18

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Management of the condition involves early diagnosis, genetic counseling and multidisciplinary approach in the treatment by endocrinologist, audiologist, ophthalmologist, geneticist, neurologist, orthopedician, immunologist, physical therapist, occupational therapist and speech therapist. [9] Treatment should be focused based on signs and symptoms of the condition as they arise. Routine screening should be advised for early diagnosis and treatment. [9] No specific treatment exists, but early rehabilitative and educational interventions are recommended before definite prognosis is determined, since the majority of patients have major speech problems and difficulties with speech articulation. Physical therapy for hypotonia should be advised. [3] This studies showed that growth hormone therapy can improve the IQ and height of affected individuals. [9],[10]


   Conclusion Top


Deletion 18p syndrome is a rare syndrome. Knowledge about its clinical features helps in early diagnosis. Genetic counseling should be carried out and depending on parental carrier status of 18p deletion further issue can be planned.

 
   References Top

1.Pachajoa H, Saldarriaga W, Islaza C. 18p-syndrome: Presentation of two cases with alobar holoprosencenphaly. Colomb Med 2010;41:367-72.  Back to cited text no. 1
    
2.Maranda B, Lemieux N, Lemyre E. Familial deletion 18p syndrome: Case report. BMC Med Genet 2006;7:60.  Back to cited text no. 2
    
3.Turleau C. Monosomy 18p. Orphanet J Rare Dis 2008;3:4.  Back to cited text no. 3
    
4.Zumel RM, Darnaude MT, Delicado A, Diaz de Bustamante A, de Torres ML, López-Pájares I. The 18p- syndrome. Report of five cases. Ann Genet 1989;32:160-3.  Back to cited text no. 4
    
5.Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. Molecular characterization of 18p deletions: Evidence for a breakpoint cluster. Genet Med 2002;4:15-9.  Back to cited text no. 5
    
6.Hermesch CB, Cody JT, Cody JD. Dental caries history in nine children with chromosome 18p deletion syndrome. Spec Care Dentist 2000;20:53-5.  Back to cited text no. 6
    
7.Kasasbeh FA, Shawabkeh MM, Hawamdeh AA. Deletion of 18p syndrome. Lab Med 2011;42:436-8.  Back to cited text no. 7
    
8.Unique 18p deletions. Rare chromosome disorder support group UK. Available from: http://www.rarechromo.org/information/Chromosome%2018/18p%20deletions%20FTNW.pdf. [Last accessed on 2013 Nov 11].  Back to cited text no. 8
    
9.Handbook of genetic counseling/18p deletion syndrome. Available from: http://www.en.wikibooks.org/wiki/Handbook_ of_Genetic_Counseling/18q_Deletion_Syndrome. [Last accessed on 2013 Nov 11].  Back to cited text no. 9
    
10.Schober E, Scheibenreiter S, Frisch H. 18p monosomy with GH-deficiency and empty sella: Good response to GH-treatment. Clin Genet 1995;47:254-6.  Back to cited text no. 10
    


    Figures

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    Tables

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