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| CASE REPORT |
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| Year : 2018 | Volume
: 7
| Issue : 3 | Page : 223-227 |
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Seckel syndrome: A case report of the rare syndrome
N Mahesh1, Sivan Sathish1, Lakshmayya Naidu2, Sanjay Reddy1, J Rajesh K. Reddy3, Pavan Kancherla2
1 Department of Oral Medicine and Radiology, K.L.R's Lenora Institute of Dental Sciences, Rajanagaram, Andhra Pradesh, India
2 Department of Orthodontics and Dentofacial Orthopedics, K.L.R's Lenora Institute of Dental Sciences, Rajanagaram, Andhra Pradesh, India
3 Department of Prosthodontics, K.L.R's Lenora Institute of Dental Sciences, Rajanagaram, Andhra Pradesh, India
| Date of Web Publication | 17-Sep-2018 |
Correspondence Address:
Dr. N Mahesh
Department of Oral Medicine and Radiology, K.L.R's Lenora Institute of Dental Sciences, Rajanagaram, Andhra Pradesh - 533 294
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/JDRNTRUHS.JDRNTRUHS_100_14
Seckel syndrome is a rare genetic disorder characterized by marked intra-uterine growth retardation (primordial dwarfism) and post natal dwarfism, microcephaly, mental retardation and typical facial features with a 'bird-headed' appearance. The syndrome has autosomal recessive inheritance with equal male and female sex occurrence. Here is an interesting case of a nineteen years old male patient, presented with various clinical manifestations, typical radiographic features and characteristic dental manifestations correlated with the literature. A thorough knowledge aids in better diagnosis, proper management and prevention of disastrous complications arising from this extremely rare inherited disorder, the Seckel syndrome.
Keywords: Apertognathia, “Bird - like” facies, micrognathia, mental retardation
How to cite this article:
Mahesh N, Sathish S, Naidu L, Reddy S, Reddy J R, Kancherla P. Seckel syndrome: A case report of the rare syndrome. J NTR Univ Health Sci 2018;7:223-7 |
How to cite this URL:
Mahesh N, Sathish S, Naidu L, Reddy S, Reddy J R, Kancherla P. Seckel syndrome: A case report of the rare syndrome. J NTR Univ Health Sci [serial online] 2018 [cited 2023 Mar 22];7:223-7. Available from: https://www.jdrntruhs.org/text.asp?2018/7/3/223/241275 |
| Introduction | |  |
Seckel syndrome or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow-Seckel dwarfism, and Bird-headed dwarf of Seckel)[1] is an extremely rare congenital autosomic disorder.
The syndrome is named after an American physician, Helmut Paul George Seckel.[2] Harper's syndrome, a term often used as a synonym for the Seckel syndrome, was named after Rita G. Harper.[3] The term “bird-headed dwarf” was initially introduced by Rudolf Virchow. The Seckel syndrome is a rare, congenital heterogenous autosomic rare disorder with an incidence of 1:10,000 in live born children,[4],[5] presenting at birth.
This syndrome is characterized by intrauterine growth retardation and postnatal dwarfism, with severe microcephaly, “bird-headed” appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation.[6] Various other facial and skeletal abnormalities noted are low-set ears with hypoplastic ear lobules, premature closure of cranial sutures, fifth finger clinodactyly (permanent deviation or deflection of one or more fingers), dislocation of radial heads (pelvis and elbows), and 11 pairs of ribs.[7] The significant dental alteration in this syndrome is defective hypoplastic enamel.
| Case Report | | |
A young male patient aged 26 years reported department of oral medicine and radiology, with the chief complaint of pain in his decayed lower left back tooth for the past 2 weeks. His postnatal history revealed abnormal speech and stunted growth for the past 15 years. Family history of the patient revealed that his mother had consanguineous marriage at the age of 20 years. The patient was her first child with preterm delivery and low birth weight of about 1.9 kg. From birth onwards, his head was small in shape and size and it was more noticeable as he grew. He also had abnormal speech, for which they had consulted a physician, but he was not under any medication.
General examination revealed ataxic gait, abnormal speech, and mental retardation. Systemic examination revealed no abnormalities. Extraoral examination revealed microcephaly, receding forehead with V-shaped frontal hair line, low-set ears with relatively small ear lobes, large nose but not curved, and mid-facial prominence with relatively small mandible and with a head circumference in the range of 40 cm [Figure 1] and [Figure 2]. Intraoral examination revealed congenital missing teeth of 16, 36 and 46, with Class II canine relation, apertognathia, and generalized spacing of dentition.
Orthopantamogram revealed generalized decreased density of the enamel with permanently missing 16, 36, and 46, with prominent antigonial notches [Figure 3]. Posteroanterior view of the skull revealed asymmetric calvarium, delayed closure of sagittal suture, thinning of diploes, deviated nasal septum, obliteration of maxillary sinus, prominent antigonial notch, and open bite [Figure 4]. True lateral cephalogram revealed beaked prominent soft tissue shadow of nose and pneumatization of mastoid sinus [Figure 5] and three-dimensional computed tomogram of the skull revealed asymmetric calvarium [Figure 6], open bite and bird-like face appearance [Figure 7], and delayed closure of sagittal and lambdoid sutures [Figure 8]. | Figure 8: 3D CT of the skull with delayed closure of sagittal and lambdoid sutures
Click here to view |
| Discussion | | |
Seckel syndrome is characterized by severe intrauterine and postnatal growth retardation, microcephaly, proportionate dwarfism, and typical beak-like facial appearance with skeletal and brain abnormalities.[6],[7]
The pathophysiology of this syndrome can be attributed to the defects in the ATR (ataxia telangiectasia and rad-3 protein) ATR signaling pathway. ATR responds to single strand regions of DNA exposed during stalling of replication forks during repair of certain DNA adducts. ATM (ataxia telangiectasia mutated protein) is activated following DNA double strand breakage. Mutations in ATM cause ataxia telangiectasia (A-T) a human condition causing clinical and cellular radiosensitivity progressive ataxia, cancer predisposition, and immune dysfunction.[8]
An important function of ATR is the coordination of responses to replication fork stalling, which arises during normal replication possibly as a consequence of endogenous DNA damage. These are characterized as ATR-Seckel cells. These cells exhibit a range of abnormalities such as aberrant responses to agents that cause replication stalling, defective in UV-induced G2/M arrest, increased Hu-induced micronuclei, increased DNA damage-induced nuclear fragmentation, and increased numbers of mitotic cells with supernumerary centrosomes. Seckel syndrome is clinically and genetically heterogenous with defective gene localized to 3q21-24 causing mutational changes.[8]
Incidence of cases reported showed equal male:female ratio. Mean birth weight of affected newborns ranged approximately 1540 g (range, 1000–2055 g), which was also noted in our case. Postnatal growth deficiency is on average seen in most cases. Head circumference is retarded in almost all the cases, however, 50% of cases showed association with decreased height. All patients are mentally retarded, with half having an intelligence quotient below 50[9] with moderate mental deficiency in some instances. In addition to delayed osseous maturation, the phalanges exhibit ivory epiphysis and cone-shaped epiphysis in the proximal phalanges. The carpal bones are relatively small and showed disharmony in maturation between the carpals and phalanges.[9],[10]
Craniofacial features are striking with microcephaly, receding forehead, relatively large ears, micrognathia, V-shaped frontal hair line, prominent mid-face and curved nose.[9],[11] Delayed synostosis of cranial sutures, facial asymmetry, small palpebral fissures with telecanthus, lobe-less ears, high arched palate, crowded teeth, and class II malocclusion.
Retarded head circumference, hip dysplasia, clinodactyly of 5th finger [12] are reported in our case. Manifestations such as posterior cleft palate, hypoplasia of the enamel defects, especially the primary dentition, sparse hair, and strabismus, cryptorchidism, clitoromegaly, hirsutism, large basal ganglia, and arachnoidal cysts are other features rarely seen.[9],[10],[13]
Other serious anomalies such as neonatal cholestasis, tetralogy of fallot, atrial septal defect and coarctation of aorta, cardiaomegaly, and cardiac arrhythmias leading to death sometimes have also been reported. Renal disorders such as renal tubular leakage, focal medullary hypoplasia, renal cysts, or renal hypoplasia are also seen.[9],[12],[14]
Radiographic features such as microcephaly, steep skull base, asymmetric calvarium, delayed closure of sagittal suture, shortened humeri, bilateral dislocation of elbow, deep antigonial notch, short metacarpals, enlarged metaphysis, absence of secondary ossification centers, and hypoplasia of lower ilia and iliac angle have been reported.[7],[11],[12],[13],[15]
The differential diagnoses of this syndrome are mainly diseases such as Dubowitz syndrome, fetal alcohol syndrome, Trisomy 18, De Lange syndrome, and Bloom syndrome. Most of these syndromes show features such as microcephaly, facial asymmetry, micrognathia, and discrepancy of mid-facial region. However, Seckel syndrome depicts other features such as delayed cranial sutures, large lobe-less ears, apertognathia, large nose, and relatively small mandible, which are almost seen in our case reported.[9],[7]
Management
Management of this condition is directed towards the prevention of associated complications such as atrial septal defects, cardiac arrhythmias, and other renal disorders.[11],[14]
The present case was referred to a general physician to evaluate the general health status followed by a psychiatrist to evaluate the mental status, he had little impaired mental condition and his general health was better. Hence, the patient was treated with oral prophylaxis and was advised to maintain complete oral care and was kept under regular follow-up as he deferred further cosmetic surgical management.
| Conclusion | | |
Seckel syndrome is a very rare disorder due to mutations of genes inducing chromosome instability leading to various physical, mental, hematological, and hormonal disorders. Different manifestations of the syndrome should be checked and diagnosed as early as possible to avoid a poor prognosis and possible associated complications such as death caused due to cardiac insufficiency, arrhythmias or pituitary insufficiency. Genetic counseling is mostly recommended to prevent this type of disorders.[16]
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.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
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| 13. | Sauk JJ, Litt R, Espiritu CE, Delaney JR. Familial Bird-headed Dwarfism (Seckel's Syndrome). J Med Genet 1973;10:196-8. |
| 14. | Majoor-Krakauer DF, Wladimiroff JW, Stewart PA, van de Harten JJ, Niermeijer MF. Microcephaly, micrognathia, and bird-headed dwarfism: Prenatal diagnosis of a Seckel-like syndrome. Am J Med Genet 1987;27:183-8. |
| 15. | Kjaer I, Hansen N, Becktor KB, Birkebaek N, Balslev T. Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel Syndrome. Cleft Palate Craniofac J 2001;38:645-51. |
| 16. | Chentli F, Belahcene S, Azzoug S. Seckel's Like Syndrome with Primordial dwarfism marked mental retardation and severe heart malformation. Ibnosina J Med BS 2013;5:339 44. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]
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