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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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SYNDROME
Year : 2007  |  Volume : 25  |  Issue : 5  |  Page : 8-9
 

Bird-Headed Dwarf of Seckel


1 Department of Oral Medicine and Radiology, Meenakshi Ammal Dental College and Hospital, Maduravoyal, Chennai, India
2 Department of Pediatric Dentistry, Meenakshi Ammal Dental College and Hospital, Maduravoyal, Chennai, India

Correspondence Address:
B G Harsha Vardhan
Department of Oral Medicine and Radiology, Meenakshi Ammal Dental College and Hospital Maduravoyal, Chennai
India
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PMID: 17921644

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   Abstract 

Seckel syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth resulting in low birth weight. Growth delays continue after birth resulting in short stature (dwarfism). This syndrome is associated with an abnormally small head, varying degrees of mental retardation and unusual "beak like" protrusion of nose. Other facial features may include abnormally large eyes, a narrow face, malformed ears and an unusually small jaw. This syndrome has an autosomal recessive pattern of inheritance. A case of the Seckel syndrome is presented.


Keywords: Clinodactyly, kyphoscoliosis, microcephaly, Seckel syndrome


How to cite this article:
Harsha Vardhan B G, Muthu M S, Saraswathi K, Koteeswaran D. Bird-Headed Dwarf of Seckel. J Indian Soc Pedod Prev Dent 2007;25:8-9

How to cite this URL:
Harsha Vardhan B G, Muthu M S, Saraswathi K, Koteeswaran D. Bird-Headed Dwarf of Seckel. J Indian Soc Pedod Prev Dent [serial online] 2007 [cited 2014 Apr 23];25:8-9. Available from: http://www.jisppd.com/text.asp?2007/25/5/8/34738



   Introduction Top


Seckel in 1960 [1] described the disease on the basis of two cases he had studied in Chicago as well as 13 cases on nanocephalic dwarfs reported in the literature over a 200-year period. The skeleton of affected person whom Seckel discussed now reposes in the Hunterian Museum of the Royal College of Surgeons, London. 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. [2] In 1967 McKusick and colleagues documented this condition in three out of 11 siblings and suggested that inheritance was probably autosomal recessive. [3] This syndrome is also considered to be a variant of Harper syndrome. [4]


   Case Report Top


A five-year-old female child reported to the department of Oral Medicine and Radiology with a chief complaint of ulcers on the lower lip [Figure - 1]. History revealed that the child was born of consanguineous marriage and presented with delayed developmental milestones and severe growth retardation. She had an abnormal short stature with a weight of 10.7 kg, height 72 cm and a head circumference 22 cm. She had one elder sister of normal physical appearance and mental growth. On examination, she presented with anomalies such as zygomatic and mandibular hypoplasia, dislocation of temporo-mandibular joint, kyphoscoliosis, sternal abnormalities, clinodactyly, mongoloid features and microcephaly [Figure - 2],[Figure - 3]. A diagnosis of Seckel's syndrome was made based on these clinical findings. Oral examination revealed angular cheilitis with multiple ulcerations in the lower lip and commissures, which occurred as a result of self-inflicted biting [Figure - 4]. The patient presented with 20 teeth with caries evident in 55,54,64,65,74,75,84,85,51,52,61,62 giving a typical feature of early childhood caries due to prolonged bottle-feeding.

The mouth ulcers were treated with topical analgesics and anti-inflammatory agents (mucopain). Subsequently, the child was advised full mouth rehabilitation under general anesthesia, before which she passed away due to cardiac complications.


   Discussion Top


Seckel syndrome comprises of a combination of growth retardation, microcephaly, micrognathia and a beak-like nose and is termed as Bird-Headed Dwarfism. The short stature may be primary or secondary. It may be a variant as in genetic or constitutional conditions. The possible etiologic features for primary short stature could be due to skeletal dysplasias, chromosomal abnormalities, inborn errors of metabolism, intra-uterine growth retardation and miscellaneous syndromes including Russel-Silver Rubenstein Taybi, Argogs syndrome, Laron type Dwarfism. Secondary short stature could possibly occur as a result of a chronic disease or hormonal abnormalities, which include malnutrition, chronic bowel's disease, chronic renal disease, cardiac disease, in particular cyanotic disease growth hormone deficiency, hypothyroidism, gonadal dysgenesis, pseudohypoparathyroidism and premature epiphyseal fusion. Microcephaly may be due to familial trait, primary or autosomal recessive, congenital infection, birth trauma, prenatal asphyxia, fetal alcohol syndrome, maternal phenyl ketonuria, Smith- Lemli-Opitz syndrome. Micrognathia is associated with a variety of conditions, could be an incidental finding or partial expression of Downs syndrome, Edwards syndrome, Pierre Robin syndrome and Potters syndrome. Ftrank Majewski and T Goecke in 1982 tried to delineate the Seckel syndrome through their studies of micro cephalic primordial dwarfism. [5] Bondeson J in 1992 reported a case of bird-headed dwarfism. [6]

 
   References Top

1.Seckel HP. Bird-headed Dwarfs: Studies in developmental anthropology including human proportions. S Karger, Springfield, C.C. Thomas: Basel-New York; 1960  Back to cited text no. 1    
2.Virchow R. Zwergenkind. Zeitschrift fur Ethnologic. Berlin 1882;14:215  Back to cited text no. 2    
3.McKusick VA, Mahloudji M, Abboptt MH, Lindenberg R, Kepas D. Seckel's bird-headed dwarfism. N Engl J Med 1967;277:279-86  Back to cited text no. 3    
4.Harper RG, Orti E, Baker RK. Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies. J Pediatr 1967;70:799-804  Back to cited text no. 4    
5.Majewski F, Goecke T. Studies of microcephalic primordial dwarfism I: Approach to a delineation of the Seckel syndrome. Am J Med Genet 1982;12:7-21  Back to cited text no. 5  [PUBMED]  
6.Bondeson J. Caroline Crachami, the Sicilian Fairy: A case of bird-headed dwarfism. Am J Med Genet 1992;44:210-9  Back to cited text no. 6  [PUBMED]  


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]


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    Abstract
    Introduction
    Case Report
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