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Case Report
Seckel syndrome: A rare case report Rinky Sisodia, Ravi Kadur Sundar Raj1, Vipin Goel2 Department of Pedodontics and Preventive Dentistry, Rishi Raj College of Dental Sciences and Research Centre, Bhopal, 2Medical Officer, Department of Dentistry Composite Hospital, Central Reserve Police Force, Bhopal, Madhya Pradesh, India, 1Department of Preventive Dental Sciences, College of Dentistry, King Khalid University, Kingdom of Saudi Arabia
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.
Address for correspondence: Dr. Rinky Sisodia, Rishiraj College of Dental Sciences and Research Centre, Gandhi Nagar, Near Airport, Bhopal - 462 036, Madhya Pradesh, India. E-mail:
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Website: www.jisppd.com DOI: 10.4103/0970-4388.130983 PMID: ******
KEYWORDS: Bird-headed appearance, dwarfism, microcephaly, seckel syndrome
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.[1] 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.[2] 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.[3] More than 100 cases have been reported, and it occurs in 1 in 10,000 children without sex preference.[4] Characteristic skeletal anomalies include premature closure of the cranial sutures and fifth finger clinodactyly.[5] 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 moderateto-severe mental retardation (intelligent quotient (IQ)
