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CASE REPORT
Year : 2005  |  Volume : 23  |  Issue : 1  |  Page : 38-41
 

Cornelia de-Lange syndrome


Department of Orthodontia, M. M. College of Dental Sciences and Research Mullana, Ambala, India

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DOI: 10.4103/0970-4388.16026

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   Abstract 

Cornelia De Lange syndrome is a relatively uncommon, multiple congenital anomaly / mental retardation disorder of unknown etiology. Its incidence has been reported to vary from 1 : 30,000 to 1 : 50,000 of live births, without any known racial predilection. However, it has been considered to be due to a new dominant mutation. Main clinical features of this syndrome include growth retardation, developmental delay, hirsutism, structural limb abnormalities, mental retardation and facial growth discrepancies. Main causes of death in such patients include pneumonia along with cardiac, respiratory and GI abnormalities.


Keywords: Congenital, Cornelia De Lange syndrome, growth retardation


How to cite this article:
Gupta D, Goyal S. Cornelia de-Lange syndrome. J Indian Soc Pedod Prev Dent 2005;23:38-41

How to cite this URL:
Gupta D, Goyal S. Cornelia de-Lange syndrome. J Indian Soc Pedod Prev Dent [serial online] 2005 [cited 2019 Aug 25];23:38-41. Available from: http://www.jisppd.com/text.asp?2005/23/1/38/16026


Cornelia de-Lange Syndrome is relatively uncommon multiple congenital anomaly / mental retardation (MCA / MR) disorder of unknown cause. Incidence of this entity is variable, ranging from 1:30,000 to 1:50,000 in different population groups.[1] There is no racial predilection. It is slightly more common in females as compared to males, (F:M:1.3:1). Jackson etal[2] reported that 33% of these children were delivered prematurely and intrauterine growth retardation (IUGR) was evident in many children. Most children could not live more than 2 years and the main cause of death was pneumonia along with cardiac, respiratory and gastro-intestinal abnormalities. The genetic and molecular basis of this disorder is not clear. However, it is considered to be a result of new dominant mutation. In the available literature, it has been described as two separate phenotypes i.e. Classical and Mild. The main clinical features of this syndrome are retardation in growth, developmental delay, hirsutism, number of structural limb abnormalities and distinctive facial features.[3]




   Case Report Top


A male child, 11 years of age reported to the Department of Pedodontics of M. M. Dental College and Hospital, Mullana, Haryana, with the chief complaint of forwardly placed upper front teeth. History revealed that the baby was born a full term baby and suffered with jaundice at birth. Family history and medical history was not significant.

Clinical Examination revealed the following

  • Generalized Growth retardation [Figure - 1]
  • Hypertrichosis
  • Microcephaly (Brachiocephalic)
  • Anti-mongoloid Slant
  • Bilateral Ptosis
  • Synophrys (bushy eyebrows meeting in the midline) [Figure - 2] with long curly eye lashes [Figure - 3]
  • Coloboma of the eyes
  • Depressed bridge of the nose [Figure - 3] with antiverted nares [Figure - 2]
  • Low set and outwardly placed ears [Figure - 2]
  • Short neck and micrognathia
  • Low anterior hair line [Figure - 2]
  • Hirsutism [Figure - 4]
  • Micropenis (3.5 cm) and bilateral high inguinal testes
  • CMS, CVS and RS - No abnormality detected clinically
  • EEG report showed mental retardation


At 11 years of age patient had

Weight of 21 kg

Height of 125 cm

Head circumference of 48.5 cm

Mental age (Denver II Analysis) of 4-5 years

Motor age of 6-7 years



Dental Findings were as follows

Dentitons 6 5 D C 2 1 1 2 C D E 6

6 E D C 1 2 1 2 C D E 6

Prognathic Maxilla

Protruded Maxillary Anterior Teeth [Figure - 2])

Delayed Dentition

Angle's Class II div. I Malocclusion

VTO - Positive



Radiographic examination depicited following:

a) Hand-Wrist Radiograph [Figure - 6]

o Short First Metacarpel

o Clinodactyly of 5th finger [Figure - 5]

o Delayed and hypoplastic appearance of Epiphyseal centers in relation to ulna.

b) Elbow radiograph [Figure - 7]

o Hypoplastic radial head with delayed appearance of epiphysis.

c) Cephalogram [Figure - 8]

o Short Maxillary and mandibular skeletal bases

o Short vertical facial height (both upper and lower)

o Horizontal growth pattern

o Delayed growth spurt based on CVMI (Stage II)

o Protruded Maxillary Incisors

d) Orthopantomogram

o Delayed dentition

o Dental age 8-9 years (according to root growth of premolars)

As there are no genetic and bio-chemical tests available, the diagnosis is based on characteristic phenotype, in particular striking facial and skeletal abnormalities.[1]




   Discussion Top


According to the available literature, classical picture of De - Lange Syndrome are:

  • Amsterdam Dwarfism
  • Mental retardation, IQ < 50
  • Hirsutism, hypoplastic genitals
  • Feeble growling cry
  • High forehead, short neck
  • High arched palate
  • Bushy eyebrows, meeting in midline and long curved eyelashes
  • Small nose with depressed bridge, upward tilted nostrils, excessive distance between nose and upper lip.
  • Small and brachycephalic skull
  • Hypoplasia of long bones (upper limb more involved)
  • Forearm bones may be absent
  • Short radius with elbow dislocation
  • Thumbs placed proximally (hypoplastic first metacarpel)


The clinical findings of the reported case closely confirm with the classical picture of CDLS.[4],[5] Since neither a biochemical test nor any other diagnostic tests exist for CDLS, the physical diagnosis of the individuals who are mildly affected, may be difficult. Beck,[1] discussed the postmortem examination of the patients and revealed various congenital malformations of internal organs including cardiac defects, pulmonary hypoplasia, diaphragmatic hernias, gastrointestinal and genito-urinary anomalies. Van Alen[6] demonstrated ectopic neurons in cerebral white matter in new born and microcytic changes in the kidney of some patients.

Management of such patients can perfectly be done by a team approach including cardiologist, gastroenterologist, endocrinologist, urologist, ENT specialist and dental surgeon. Further insight in the development of this disorder may be revealed by sophisticated diagnostic tests including high resolution chromosomal studies of the patients.

 
   References Top

1.Beck B, Fenger K. Mortality, Pathological Findings and Causes of Death in the De-Lange Syndrome. Acta Paediatr Scand 1985;74:765-9.  Back to cited text no. 1  [PUBMED]  
2.Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: A clinical review of 310 individuals. Am J Med Genet 1993;47:940-6.  Back to cited text no. 2  [PUBMED]  
3.Filippi G. The de Lange syndrome. Report of 15 cases. Clin Genet 1989;35:343-63.  Back to cited text no. 3  [PUBMED]  
4.Braddock SR, Lachman RS, Stoppenhagen CC, et al. Radiological Features In Brachmann - De Lange Syndrome. Am J Med Genet 1993;47:1006-13.  Back to cited text no. 4  [PUBMED]  
5.Ireland M. Cornelia De Lange Syndrome: Clinical Features, Common Complications and Long Term Prognosis. Curr Pediatr 1996;6:69-73.  Back to cited text no. 5    
6.Van Alien Ml, Filippi G, Siegel - Bartelt J, et al. Clinical Variability within Brachmann De Lange Syndrome: A Proposed Classification System. Am J Med Genet 1993;47:947-58.  Back to cited text no. 6    


Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8]


This article has been cited by
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