Byline: Daya. Srinivasan, R. Jegath Reddy, C. Louis, Senthil. Dakshinamurthi
Seckel syndrome is an autosomal recessive disorder characterized by severe intrauterine growth retardation, microcephalic bird-like facies, and a mental retardation. Seckel syndrome is an autosomal recessive disorder characterized by severe intrauterine growth retardation, microcephalic bird-like facies, and a mental retardation. Dental treatment for a 3 year old child diagnosed with Seckel syndrome is discussed.
Extreme short stature at birth resulting due to intrauterine growth retardation (IUGR) is known as primordial dwarfism. Increased maternal age, syphilis, toxoplasmosis, rubella, cytomegalovirus infections, malnutrition, Vitamin B12, and folic acid deficiency are some of the risk factors of IUGR. Rao PSS, Inbaraj SG in 1977 reported that high mortality rates are seen in children who weigh <1500 g at birth or gestational age <28 weeks. Pinho JR, Filho Fl in 2012 found enamel defects in infants with low birth weight than preterm births.
Primordial dwarfism can be associated with either small (microcephalic) or normal head size (normocephalic). Some syndromes associated with microcephalic primordial dwarfism are Majewski osteodysplastic primordial dwarfism (MOPD) Types I (also called Taybi-Linder syndrome), II, III, Meier-Gorlin, and Seckel. The first symptom of primordial dwarfism is severe IUGR. MOPD I is associated with microcephaly, agenesis of the corpus callosum, seizures, short vertebrae, elongated clavicle, bowed femur, and hip displacement. In MOPD II, microcephaly is associated with squeaky voice, microdontia, widely spaced primary teeth, disturbed sleep patterns, and brain aneurysms. In MOPD III, anomalies of pelvis and clavicles are noted. Meier-Gorlin syndrome is characterized by small ears, variable degrees of deafness and absence of kneecaps, curved clavicles, and microcephaly. Normocephalic head is seen in Russell-Silver syndrome. It is associated with webbed toes, nondescended testicles, hypospadias, weak muscle tone, and delayed bone age. The heights of individuals in Russell-Silver and Meier-Gorlin syndrome exceed when compared to other primordial dwarfism.
Seckel syndrome is marked with IUGR, short stature, and microcephaly; individuals are mentally challenged. The clinical features of Seckel syndrome are shared by other impaired DNA damage responses, such as Nijmegen breakage syndrome and Ligase IV syndrome. Unlike hypopituitary dwarfism, the defect is not caused by deficiency of growth hormone but because of intrauterine growth deficit. Seckel syndrome is distinct from...
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