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CASE REPORT |
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| Year : 2005 | Volume
: 23
| Issue : 1 | Page : 38-41 |
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Cornelia de-Lange syndrome
D Gupta, S Goyal
Department of Orthodontia, M. M. College of Dental Sciences and Research Mullana, Ambala, India
Correspondence Address:
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0970-4388.16026
 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 |
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 | |  |
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 | | |
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 | | |
| 1. | Beck B, Fenger K. Mortality, Pathological Findings and Causes of Death in the De-Lange Syndrome. Acta Paediatr Scand 1985;74:765-9.  [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. [PUBMED] |
| 3. | Filippi G. The de Lange syndrome. Report of 15 cases. Clin Genet 1989;35:343-63. [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. [PUBMED] |
| 5. | Ireland M. Cornelia De Lange Syndrome: Clinical Features, Common Complications and Long Term Prognosis. Curr Pediatr 1996;6:69-73. |
| 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. |
Figures
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8]
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