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Down syndrome (DS) (part C)

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Part - see previous parts A and B)  

Hypotonia (conducive to hyperflexibility) is nearly a universal DS sign (its absecne should alert the clinician to seek causes for its absence including mistaken diagnosis). On the left and right, the infants have what in ordinary parlance has been called "frog belly" and reFLects the hypotonia of the abdomian muscles. In the center, a DS infant illustrates hyperflexibility. Note that such laxity of the first cervical articulation with the occiput and the odontoid prominence of the second cervical vertebra or atlanto-axial insstability (found in about 14% of DS patients and can be of concern regarding predisposing to apnea or spinal cord damage). Infants with DS should have their head supported. 

 

In DS the hard palate is short - the oral cavity can not accomModate the tongue, a cause for the open mouth, protruding tongue and intermitenT tongue thrusting associated with drooling, angular cheilitis, chapped lower lips, mouth breathing, etc. These features increase the risk for ear infections, respiratory infections and in combination with a reduced lung capacity (note the narrowness of the chest), infants with DS are brittle and resist badly respiratory infections - anesthesia intubation may  also be difficult and prone to cause complications - even relatively minor surgical interventions can be badly tolerated or fatal).

 

The neck tends to be short and the skin folds on the back (nape) quite thick (buffalo hump sign). Also, as  shown in the center the hairlines and scalp hair reflect sparce and dysplatic hair including on the eyebrows and eyelashes. On the right there is a hint of a concerntric series of white spots (called Brushfield spots) which are easier to note in lightly pigmeted irides and are quite typical of DS. 

 (continued)  

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