Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Jan 4, 2013.
what is your med diagnosis ?
Down's syndrome ( Trisomy 21 )
Chromosomal (21) trisomia. Downs syndrome.
Answer : Down Syndrome
Related Self Assessment Question
Friends are considering adopting a "special needs" child from another country. The family has few details, but the information they have received so far suggests the 4-year-old child has had surgery for an endocardial cushion defect, is short for his age, and had a history of what sounds like surgically repaired duodenal atresia at birth. You are suspicious this child may have which of the following syndromes?
[FONT=&]Down syndrome has many diagnostic features, including short stature, microcephaly, centrally placed hair whorl, small ears, redundant skin on the nape of the neck, upslanting palpebral fissures, epicanthal folds, flat nasal bridge, Brushfield spots, protruding tongue, short and broad hands, simian creases, widely spaced first and second toe, and hypotonia. Cardiac lesions are found in 30% to 50% of children with Down syndrome, including endocardial cushion defect (30%), VSD (30%), and tetralogy of Fallot (about 30%). At birth, duodenal atresia is a common finding. It causes bilious vomiting and a characteristic KUB radiographic findings of a double bubble (dilatation of the stomach and the proximal duodenum).[/FONT]
[FONT=&]In Klinefelter syndrome, the testes are smaller than normal for age and feel firm and fibrotic. Physical examination often reveals a eunuchoid body habitus and reduced upper to lower body segment ratio secondary to a long lower segment. Diagnosis is established by means of buccal smear and karyotyping. Levels of luteinizing hormone are elevated after 12 years of age.[/FONT]
[FONT=&]Common features of Turner syndrome include female phenotype, short stature, sexual infantilism, streak gonads, broad chest, low hairline, webbed neck, congenital lymphedema of the hands and feet, coarctation of the aorta, and a variety of other anomalies.[/FONT]
[FONT=&]Marfan syndrome is a serious disease of connective tissue that is inherited in the autosomal dominant mode. The predominant findings in this condition are bilateral subluxation of the lens, dilatation of the aortic root, and disproportionately long limbs in comparison with the trunk. The decreased upper to lower segment ratio in Marfan syndrome reflects this relative increase in the length of the legs compared with the trunk.[/FONT]
[FONT=&]Waardenburg syndrome is the most common of several syndromes that are characterized by both deafness and pigmentary changes. Features of this syndrome, which is inherited as an autosomal dominant disorder, include a distinctive white forelock, heterochromia irides, unilateral or bilateral congenital deafness, and lateral displacement of the inner canthi.[/FONT]
[FONT=&]The answer is D.[/FONT]
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