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 Table of Contents  
CASE REPORT
Year : 2018  |  Volume : 5  |  Issue : 1  |  Page : 56-57

Incomplete cleft palate in a child with De Barsy syndrome


Department of Plastic Surgery, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India

Date of Web Publication8-Feb-2018

Correspondence Address:
Dr. Sireesha Reddy Konda
Department of Plastic Surgery, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry - 605 006
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jclpca.jclpca_95_17

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  Abstract 


De Barsy syndrome, a rare genetic disorder, is characterized by progeroid features, cutis laxa, ocular abnormalities, growth retardation, and intellectual disability. We present a case of 1½- year-old male child with De Barsy syndrome associated with incomplete cleft palate.

Keywords: Cleft palate, corneal clouding, cutis laxa, De Barsy syndrome, intellectual disability


How to cite this article:
Mohapatra DP, Konda SR, Babu P. Incomplete cleft palate in a child with De Barsy syndrome. J Cleft Lip Palate Craniofac Anomal 2018;5:56-7

How to cite this URL:
Mohapatra DP, Konda SR, Babu P. Incomplete cleft palate in a child with De Barsy syndrome. J Cleft Lip Palate Craniofac Anomal [serial online] 2018 [cited 2019 May 24];5:56-7. Available from: http://www.jclpca.org/text.asp?2018/5/1/56/224908




  Introduction Top


In 1968, De Barsy reported a patient with corneal degeneration, cutis laxa, progeria, dwarfism, and intellectual disability.[1],[2] According to the National Organization for Rare Disorders (NORDs), fewer than 50 cases have been reported in the medical literature till date.[3] The accurate incidence and prevalence of this disorder are not known. Most of the cases present at birth or by early infancy.[3] Genevieve et al. reported association of cleft of hard palate with autosomal recessive type of cutis laxa.[4]

We present here a case report of De Barsy syndrome with incomplete cleft palate.


  Case Report Top


A 1½-year-old male child presented to our department with history of intermittent nasal regurgitation and recurrent upper respiratory tract infection. He is born as a second issue to nonconsanguineous married parents. He is born by caesarean section at term 10 months gestation with oligohydramnios to a 20-year-old woman with no history of alcohol, smoking, or any other drug addiction during pregnancy, with regular antenatal checkup. No significant family history was present and he has two female siblings with no congenital anomalies.

The child had frontal bossing, midface hypoplasia, large low set ears [Figure 1]a, excessive skin wrinkling, prematurely aged appearance [Figure 1]b, thin lips, small nose, bilateral corneal opacities [Figure 1]c, bifid uvula [Figure 1]d, left-sided inguinal hernia, and hypotonia. The developmental milestones were delayed, with the absence of neck holding, failure to thrive, and intellectual impairment. The child had undergone bilateral penetrating keratoplasty for corneal opacities at the age of 1 year 3 months. A diagnosis of incomplete cleft palate with De Barsy syndrome was made.
Figure 1: (a) Excessive wrinkling, low set ears, absence of neck holding, (b) progeroid appearance and excessive wrinkling, (c) bilateral corneal opacities, (d) intraoperative finding of bifid uvula and incomplete cleft palate

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After relevant investigations and fitness for general anesthesia, the child was posted for surgery and intravelar veloplasty was carried out. The postoperative course was uneventful.

Cleft palate was repaired in view of intermittent regurgitation. Postoperatively, there has been no nasal regurgitation. As the child has developmental delay and mental retardation, normal speech cannot be expected. The same has been explained to the family. Genetic analysis has not been done since the diagnosis is mostly clinical and as the facility is not available in our center. Tissue biopsy for cutaneous abnormalities has to be done in follow-up period after taking consent from parents.

Long-term follow-up of this child is to be done to know the healing, speech development, and facial growth.


  Discussion Top


De Barsy syndrome is an extremely rare autosomal recessive disorder characterized by cutis laxa, a progeria-like appearance which is due to dermal hypoplasia and ophthalmological abnormalities. It was first described by De Barsy et al. in 1967 with a full report on the case published in 1968. They described a 2-year-old child with cutis laxa, a progeria-like appearance, and oligophrenia.

Till now, the cases reported of the De Barsy syndrome have had different phenotypic alterations. There seems to be no racial predisposition. Although many reports have found no gender predilection, some others do suggest that it is slightly more common in men.

The most important feature is progeria-like appearance which is seen in 100% cases; growth retardation is seen in 96% cases, 34% of patients will present with umbilical hernia, psychomotor developmental delay in 76%; congenital cataract in 48% of the cases as well as myopia, divergent strabismus, and blue sclera in various proportions.[2],[5],[6]

Genetic analysis of some cases of De Barsy syndrome showed mutations in either PYCR1 or ALDH18A1 genes. Few cases do not have mutations in either of these genes but have features of De Barsy syndrome. Hence, this suggests that some genes that are yet to be identified may cause the disorder.[3] However, according to the NORD, genetic analysis is not mandatory to reach a diagnosis of De Barsy syndrome and such a diagnosis is essentially clinical.[7]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgment

We would like to acknowledge the support of JIPMER Smile Train Cleft Project for this child.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Toriello HV. Premature ageing syndromes. In: Irvine AD, Hoeger PH, Yan AC, editors. Text Book of Pediatric Dermatology. 3rd ed. Oxford: Willey-Blackwell; 2011.p 134.6-134.7.  Back to cited text no. 1
    
2.
Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G. De Barsy syndrome: A review of the phenotype. Clin Dysmorphol 2008;17:99-107.  Back to cited text no. 2
[PUBMED]    
3.
Available from: https://www.rarediseases.org/rare-diseases/de-barsy-syndrome/. [Last accessed on 2017 Dec 14].  Back to cited text no. 3
    
4.
Genevieve D, Baumann C, Huber C, Faivre L, Sanlaville D, Bodemer C, et al. Anovel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation. J Med Genet 2004;41:e77.  Back to cited text no. 4
[PUBMED]    
5.
Dutta A, Ghosh SK, Ghosh A, Roy S. A 5-year journey with cutis laxa in an Indian child: The De Barsy syndrome revisited. Indian J Dermatol 2016;61:81-4.  Back to cited text no. 5
[PUBMED]  [Full text]  
6.
Cheriathu J, D'souza IE, John LJ, Bahtimi RE. Progeroid syndrome of De Barsy with hypocalcemic seizures. J Nepal Paediatr Soc 2012;32:175-7.  Back to cited text no. 6
    
7.
Available from: https://www.rarediseases.info.nih.gov/diseases/49/de-barsy-syndrome. [Last accessed on 2017 Dec 14].  Back to cited text no. 7
    


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