|Year : 2014 | Volume
| Issue : 2 | Page : 160-163
Seckel syndrome: A rare case report
Rinky Sisodia1, Ravi Kadur Sundar Raj2, Vipin Goel3
1 Department of Pedodontics and Preventive Dentistry, Rishi Raj College of Dental Sciences and Research Centre, Bhopal, Madhya Pradesh, India
2 Department of Preventive Dental Sciences, College of Dentistry, King Khalid University, Kingdom of Saudi Arabia
3 Medical Officer, Department of Dentistry Composite Hospital, Central Reserve Police Force, Bhopal, Madhya Pradesh, India
|Date of Web Publication||17-Apr-2014|
Rishiraj College of Dental Sciences and Research Centre, Gandhi Nagar, Near Airport, Bhopal - 462 036, Madhya Pradesh, India
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed). In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor psychomotor development. This case report presents an 8-year-old child with SS born to parents, exposed in Bhopal gas disaster.
Keywords: Bird-headed appearance, dwarfism, microcephaly, seckel syndrome
|How to cite this article:|
Sisodia R, Raj RS, Goel V. Seckel syndrome: A rare case report. J Indian Soc Pedod Prev Dent 2014;32:160-3
| Introduction|| |
Seckel syndrome (SS) is an extremely rare disease that is a form of primordial autosomal recessive dwarfism. Etiology of the syndrome, which involves multiple malformations, remains unclear, and both sexes are equally affected.  Helmut P. G. Seckel first described the syndrome in 1960 based on 13 cases from the literature and two personally studied cases. He defines the syndrome as severe intrauterine growth retardation, severe short stature, severe microcephaly, bird-headed profile, receding chin and forehead, large beaked nose, mental retardation, and other congenital anomalies.  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. 
More than 100 cases have been reported, and it occurs in 1 in 10,000 children without sex preference.  Characteristic skeletal anomalies include premature closure of the cranial sutures and fifth finger clinodactyly.  In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. Retarded bone age and moderate-to-severe mental retardation (intelligent quotient (IQ) <50 in 50% of cases) are observed in patients with SS. In one-half of cases, head circumference is more retarded than height, while for the remainder it is as retarded as height. Other systemic manifestations associated with SS includes Fanconi anemia, leukemia, chronic nephritis, dysgenesis of cerebral cortex, and corpus callosum, as well as a vast spectrum of skeletal defects. 
The aim of this paper is to report the present case in the literature with characteristic findings and possible etiology with differential diagnosis.
| Case Report|| |
An 8-year-old child was presented in the Department of Pedodontics and Preventive Dentistry in Rishiraj College of Dental Sciences and Research Center, Bhopal, seeking treatment for decayed and painful teeth. On detailed history, parents revealed that both were exposed in Bhopal gas tragedy. They had nonconsanguineous marriage. Mother was 15 and father was 30 years old at marriage time. They have eight children; sixth- and eighth-ranked child was born with microcephaly. The sixth child passed away at 7 years of age. He is eighth in order of birth. There was no history of any systemic disease during gestational period. Born at 36 weeks by normal vaginal delivery at home, with birth weight of 900 g, he cried after 15 min of birth.
He presented with delayed developmental milestones and severe growth retardation. He had an abnormal short stature with a weight of 7.5 kg, height 71 cm, and head circumference 31 cm [Figure 1]. On examination, he presented with anomalies such as zygomatic and mandibular hypoplasia, kyphoscoliosis, sternal abnormalities, clinodactyly, mongoloid features, and microcephaly. He had receding, sloped forehead and chin, low-set ears with hypoplastic lobules and large eyes with downslanting palpebral fissures, beaked-like protrusion of nose, narrow face, and receding lower jaw [Figure 2]. Unilateral cryptorchidism, urinary and fecal incontinence because of small spina bifida was also noted. A diagnosis of SS was made based on these clinical findings. Angular cheilitis was present on both angle of commissure [Figure 3]. There were 22 teeth present including permanent first maxillary molars with evidence of severe early childhood caries due to prolonged bottle feeding. Lower anterior teeth were exempted from carious involvement [Figure 4]. Patient was still on bottle feeding. There was history of weaving 2 years back.
Patient was advised for orthopantomogram (OPG), lateral cephalogram, hand-wrist radiograph, full mouth intra oral periapical (IOPA) X-ray, and complete blood picture. Patient was very anxious and uncooperative for taking OPG and lateral cephalogram and could not be taken. He was lacking in cooperation ability due to severe mental retardation. Full mouth IOPA X-ray shows evidence of presence of all permanent teeth with delayed root formation [Figure 5]. The planned treatment was caries excavation and review of 61 and 83. Pulpectomy of 85. Extent of caries and root resorption due to infection demands extraction of 51, 52, 54, 55, 64, 65, 74, 75, and 84. Hand-wrist radiograph shows bone age of 1 year 4 months when chronological age was 8 years [Figure 6]. Complete blood picture shows microcytic, hypochromic anemia. Hemoglobin was 5.1. Abnormal band formation of neutrophils was evident, with slight increase in lymphocyte and clotting time. The patient was examined at the Department of Endocrinology and growth hormone therapy was thought to be ineffective or even harmful for this patient. He was observed to have severe mental retardation and his psychomotor development showed severe retarded developmental milestones (walking at age 6 years and mute till age).
|Figure 5: Intra-oral periapical X-rays of an 8-year-old boy, showing delayed root formation of permanent teeth and multiple root resorption due to infection in primary teeth|
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|Figure 6: Hand-wrist radiograph of a boy, showing 1 year 4 month old skeletal maturation|
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Due to severe mental retardation, medical condition, and parents' unwillingness to take the child under general anesthesia and with all limitations, only caries excavation of 61 and 83 was performed. Antimicrobial therapy and analgesics were prescribed. Oral hygiene instructions were given. Preventive modalities were explained to parents to prevent caries in future. Recall visits at every 3 months were emphasized.
| Discussion|| |
Bhopal gas tragedy of 1984 is the world's worst industrial disaster that led to deaths of thousands of residents as a consequence of exposure to the toxic gases released at the time of the incident. A study carried out by Sambhavna and published in the Journal of the American Medical Association (JAMA) in 2003 showed that children conceived and born after the disaster to exposed parents were significantly different from children of the same age who were born to unexposed parents. The children born to exposed parents were shorter, thinner, lighter, and had smaller heads. Sons of exposed parents showed abnormal growth in which their upper bodies were disproportionately smaller than their lower bodies. 
The study conducted from 2008 to 2011 and approved by the institutional review board of Jawaharlal Cancer Hospital and Research Center, observed that chromosome and chromatid-type aberrations were statistically elevated in the exposed group. The study also concludes that chromosome instability still persists as a long-term effect in Bhopal gas tragedy survivors with the higher frequency of chromosomal aberrations, which may play a definitive role in the pathway of cancer progression and other genetic diseases. 
Besides risk to exposure in Bhopal gas tragedy, the age difference between parents and the increased age at the time, this child would have been born may be accounted for the expression of SS in the child.
SS comprises of a combination of growth retardation, microcephaly, micrognathia, and a beak-like nose and is termed as bird-headed dwarfism. SS should be differentiated from closely resembling Cockayne syndrome, progeria, Hallermann-Streiff syndrome More Details (HSS), and Dyggve-Melchior-Clausen (DMC) syndrome. Cockayne syndrome is comprised of dwarfism, retinal atrophy, deafness, delayed milestones, and sensitivity to radiations;  while progeria is a rare premature aging syndrome characterized by retarded physical development, abnormal facies, skeletal abnormalities, and early onset of scleroderma.  There are seven essential signs described by Francois as diagnostic criteria for HSS: These signs are dyscephalia and bird face, dental abnormalities, proportionate short stature, hypotrichosis, atrophy of skin especially on nose, bilateral microphthalmos, and congenital cataract. Other systemic abnormalities of potential importance include trachea malacia;  while DMC syndrome is characterized by microcephaly, short trunk dwarfism, mental retardation, and coarse facies. Radiographs show generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests that are pathognomonic and distinctive of DMC syndrome. 
Various orofacial anomalies have been reported for SS. Dental abnormalities include oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin demineralization.  The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, and being limited to the primary dentition; in most instances the second primary molar tooth is not affected.  This finding resembles to present case. Several cases of SS have demonstrated a high-arched palate  and cleft palate has also been reported.  Cleft palate was not observed in the present cases. There was no congenitally missing tooth on the radiographic examination in the present case. Delayed dental age was observed in the present case, as it was also reported in previous literature.  Hematopoietic disorders have been reported in approximately 15% of patients with SS.  This case also presents with microcytic, hypochromic anemia.
The importance of serial ultrasound scans during pregnancy is revealed once more by the present case report. Because our patients were not followed by serial ultrasound scans, severe intrauterine growth retardation (IUGR), microcephaly, and prominent facial features could not be diagnosed at prenatal period. Parents may be informed that the majority of cases of severe IUGR and microcephaly are detectable by serial ultrasound scans from 16 to 20 weeks of pregnancy.  In near future; linkage studies may identify the underlying pathogenesis, which is responsible for the features of the SS.
Early intervention, including preventive dental care has great importance in such cases. Preventive treatment modalities and guidance and motivation for good oral health in such cases avoid unnecessary pain, general anesthesia procedure, and medical complications due to patient's limitations.
| Conclusion|| |
SS is an extremely rare inherited disorder characterized by severe retarded developmental milestones. Due to prolonged breast and bottle feeding, these patients present with severe early childhood caries. With all limitations, it is a difficult task to treat their dental problems. Hence, parents and dentist should do regular follow-up and provide early intervention and preventive treatment to avoid unnecessary pain and complications.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]