|Year : 2012 | Volume
| Issue : 3 | Page : 258-261
Seckel syndrome: A report of a case
K Ramalingam, SD Kaliyamurthy, M Govindarajan, S Swathi
Department of Pedodontics and Preventive Dentistry, Rajah Muthiah Dental College and Hospital, Annamalai University, Chidambaram, Cuddalore, Tamil Nadu, India
|Date of Web Publication||21-Dec-2012|
Department of Pedodontics and Preventive Dentistry, Rajah Muthiah Dental College and Hospital, Annamalai University, Chidambaram, Cuddalore, Tamil Nadu
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.
Keywords: "Bird-headed" dwarf, mental retardation, Seckel syndrome
|How to cite this article:|
Ramalingam K, Kaliyamurthy S D, Govindarajan M, Swathi S. Seckel syndrome: A report of a case. J Indian Soc Pedod Prev Dent 2012;30:258-61
|How to cite this URL:|
Ramalingam K, Kaliyamurthy S D, Govindarajan M, Swathi S. Seckel syndrome: A report of a case. J Indian Soc Pedod Prev Dent [serial online] 2012 [cited 2019 Oct 23];30:258-61. Available from: http://www.jisppd.com/text.asp?2012/30/3/258/105021
| Introduction|| |
Seckel syndrome, first defined by Seckel in 1960,  is a rare autosomal recessive condition without any sex predilection, with a reported incidence of 1:10,000 live born children.  It is the most common of the microcephalic osteodysplastic dwarfisms.  Rudolf Virchow introduced the term "bird-headed dwarf" in the context of proportionate dwarfism with low birth weight, mental retardation, a pointed nose, and micrognathia. 
| Case Report|| |
A 10-year-old female patient reported to the Department of Pedodontics and Preventive Dentistry with a chief complaint of painful decayed tooth in left lower back region for past 3 days. Birth history revealed that the patient was born at full-term normal delivery to normal and unrelated parents. Weight of the patient at birth was 1.9 kg. Developmental history revealed delayed developmental milestones and severe growth retardation. Patient was mentally retarded and behavioral rating was definitely negative based on Frankel's behavior rating scale. On general examination, patient had short stature with weight being 9 kg, height 97 cm, and head circumference 28 cm. On physical examination, patient presented with receding forehead, prominent eyes, pointed nose, and micrognathia, the characteristic features of "bird-headed dwarf" [Figure 1] and [Figure 2]. On extraoral examination, there was lip incompetency and angular cheilitis [Figure 3]. On intraoral soft tissue examination, the patient had generalized chronic gingivitis. Oral hygiene status of the patient was poor. On intraoral hard tissue examination, the patient presented mixed dentition with 24 teeth.
16 55 54 53 12 11 21 22 63 64 65 26
46 85 84 43 42 41 31 32 73 74 75 36
Dental caries was evident in 16, 26, 36, and 46 with chronic irreversible pulpitis in 36. Ellis and Davey's class II fracture in 11 and 21 and class I fracture in 22 were found due to self-inflicting habits. Class II dentoskeletal pattern with increased overjet was observed. Chromosomal gene mapping of the patient revealed normal karyotype with increase in length of the satellite on the p arm of chromosome 15.
Based on the history, delayed developmental status (mental and physical), and clinical findings, a diagnosis of Seckel syndrome was made.
Dental treatment plan included oral prophylaxis, root canal treatment in 36, and restoration of carious and fractured teeth. Treatment was planned under general anesthesia through a multidisciplinary approach.
| Discussion|| |
Seckel syndrome is a rare constellation of malformations, presumably inherited as an autosomal recessive inherited trait. The male to female sex ratio is 9:11. This syndrome is a heterogeneous form of primordial dwarfism.  The synonyms of this syndrome include Seckel dwarfism, bird-headed dwarfism, nanocephalic dwarfism, and microcephalic primordial dwarfism. 
Seckel syndrome encompasses a number of facial and brain abnormalities possibly associated with prenatal and postnatal growth restriction.  The syndrome is characterized by intrauterine growth retardation (average birth weight 1540 g) and severe proportionately short stature with severe microcephaly.  In the present case, developmental history revealed delayed developmental milestones and severe growth retardation [Figure 4]. Weight of the patient at birth was 1900 g, the weight at the time of examination being 9000 g with height 97 cm and head circumference 28 cm. In the present case, parents were unaffected and the child was born to normal unrelated parents.
The syndrome is characterized by mental retardation with an IQ less than 50.  These patients are often hyperkinetic and easily distracted.  In the present case, patient was mentally retarded and mental age of the patient was less when compared to the chronological age. Dental age of the patient was normal compared to the chronological age.
The etiopathogenesis of this syndrome remains unclear.  The mode of inheritance in Seckel syndrome is thought to be autosomal recessive. Advances in molecular genetics have shown some aberration in a few chromosomes. It can be due to increased chromosomal instability or chromosomal breakage.  Chromosomal aberrations causing Seckel syndrome have been reported in earlier studies in genes 2q33.3-34,  18p11.31-q11.2,  and 3q22.1-q24.  In the present case, chromosomal gene mapping revealed normal karyotype with increase in length of the satellite on the p arm of chromosome 15 [Figure 5].
|Figure 5: Chromosomal gene mapping of the patient revealed normal karyotype with increase in length of the satellite on the p arm of chromosome 15|
Click here to view
Clinical facial features of this syndrome include "bird-headed profile" with receding forehead, large eyes, beak-like protrusion of the nose, narrow face, receding lower jaw, and micrognathia.  In the present case, the patient presented with characteristic features of a "bird-headed profile."
Other occasional features include high-arched palate, cleft palate, malocclusion, enamel hypoplasia, premature closure of cranial sutures secondary to diminished brain growth, antimongoloid slant of palpebral fissures, dysplastic ears, clinodactyly of the fifth fingers, cryptorchidism, clitoridomegaly, hirsutism, agenesis of corpus callosum, pachygyria, retarded bone age, frequent hip dysplasia, dislocation of the head of radius,  low-set ears, and 11 pairs of ribs.  In addition, abnormalities have been found in cardiovascular, hematopoietic, and endocrine, as well as nervous system. 
The primary diagnostic features are severe intrauterine growth retardation, microcephaly, characteristic "bird-headed profile," and mental retardation.  In most cases, diagnosis depends upon recognition of clinical findings.  In the present case, a diagnosis of Seckel syndrome was made based on history, delayed development, and clinical features (bird-headed profile).
The craniofacial features of Seckel syndrome allow its differentiation from other syndromes of growth deficiency with microcephaly, such as Dubowitz syndrome, fetal alcohol syndrome, trisomy18 syndrome, DeLange syndrome, and Fanconi syndrome. 
The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected.  In the present case, both primary and permanent dentition were not hypoplastic.
Children affected with Seckel syndrome do have a normal lifespan although they often have profound mental and physical deficits. Survival of these patients till the age of 75 years has been recorded.  Recurrence of the disease can be suspected by the observation of intrauterine growth retardation with microcephaly in the second trimester of pregnancy when a first child was born with Seckel syndrome. Early molecular antenatal diagnosis can be performed for a couple who had a first child with Seckel syndrome if the familial mutations have been identified. 
| References|| |
|1.||Cherian MP. Seckel cell syndromes or Seckel variants? Ann Saudi Med 2004;24:469-72. |
|2.||Kutlu R, Alkan A, Kutlu O, Yakinci C. Seckel syndrome with polyarteritis nodosa. Indian Pediatr 2004;41:1158-61. |
|3.||Faivre L, Daire VC. Seckel syndrome. Orphanet Encyclopedia 2005. Available from: http://www.orpha.net/data/patho/GB/UK-Seckel (05).pdf [August 2011] |
|4.||Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D. Bird-headed dwarf of Seckel. J Indian Soc Pedod Prev Dent 2007;25 Suppl: S8-9. |
|5.||Seymen F, Tuna B, Kayserili H. Seckel syndrome: Report of a case. J Clin Pediatr Dent 2002;26:305-9. |
|6.||Napolitano R, Maroutti GM, Quarantelli M, Martinelli P, Paladini D. Prenatal diagnosis of Seckel Syndrome on 3-dimensional sonography and magnetic resonance imaging. J Ultrasound Med 2009;28:369-74. |
|7.||Courtens W, Speleman F, Messaian L, Bormans J, Van Roy N, Vamos E. Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome. Am J Med Genet 1997;71:479-85. |
|8.||Borglum AD, Balslev T, Haagerup A, Birkebaek N, Binderup H, Kruse TA, et al. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. Eur J Hum Genet 2001;9:753-7. |
|9.||Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M. Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24. Am J Hum Genet 2000;67:498-503. |
|10.||Sauk JJ, Litt R, Espiritu CE, Delaney JR. Familial bird-headed dwarfism (Seckel's syndrome). J Med Genet 1973;10:196-8. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]