
Both autosomal dominant and recessive patterns of inheritance have been proposed.2 Bilateral tibial hemimelia has also been associated with CHARGE syndrome and Langer-Giedion syndrome and may be linked to several loci on chromosome 8.4,5

Both autosomal dominant and recessive patterns of inheritance have been proposed.2 Bilateral tibial hemimelia has also been associated with CHARGE syndrome and Langer-Giedion syndrome and may be linked to several loci on chromosome 8.4,5

The easiest way to explain what "people-first" language is might be to examine what it is not. We can do this by considering commonly accepted uses of titles that we may hear every day-usages such as "Coach Pat" or "Doctor Bob."

As the father of a child with severe classic autism--and as a pediatrician--I understand how much parents want to try different treatment approaches to help their child. Many parents ask me about complementary (or alternative or holistic) therapies, such as restrictive diets, secretin, chelation, and omega-3 supplements. Some inquire after hearing claims that a particular diet or supplement or herb can work wonders. Others ask about these therapies after reading studies on the Internet, in magazines, or in newspapers.

This 21-month-old toddler was brought for a well child visit. His head had been large since birth; at this visit, head circumference was 51 cm (significantly above the 95th percentile). Neurological findings were normal; except for some early developmental gross motor delays, he was on a par with his peers. All other physical findings were normal. His mother's head circumference is 59 cm and his father's is 64 cm.

The rash on the upper torso, arms, and back of an 11-year-old started after he had a headache and fever for 3 days. The patient also has a distinctive pharyngitis with redness and some petechiae.

This toddler has had abnormal-looking eyes since birth.What is this condition--and how common is it? Might this ocular malformation be associated with any other findings?

Ten-day-old boy born vaginally at 37 weeks breech without complications. Has history of poor feeding with vomiting and has lost weight since birth. One episode of vomiting described as projectile. Ultrasonography ruled out pyloric stenosis but revealed bilateral hydronephrosis. Patient referred to the emergency department for further evaluation.

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