Case File #2

A mother brings her 12-month-old child for a well-child visit. The infant appears to be small for her age. Her weight is below the 5th percentile on standardized growth curves (5oth percentile of an 8-month-old), her length is at the 25th percentile, and her head circumference is at the 50th percentile. Her vital signs and her examination are otherwise normal.

What is the most likely diagnosis?

Email answers to zjgb14@goldmail.etsu.edu

Answer to Case File #1

The infant presents with classic characteristics of Down Syndrome.

The next step in evaluation: Infant chromosomal evaluation to confirm diagnosis, evaluation for other features of the syndrome, counseling, and family support.

Definitions:

Advanced maternal age: The incidence of Down Syndrome increases each year beyond the age of 35. At 35 years, the incidence is 1 in 378 live born infants, increasing to 1 in 106 by age 40 and to 1 in 11 by age 49.

Brachydactyly: Excessive shortening of hand and foot tubular bones resulting in a boxlike appearance.

Clinodactyly: Incurving of one of the digits. In Down Syndrome the fifth digit curves toward the fourth digit due to midphalanx dysplasia

Triple screen: Measurements of alpha-fetaproten (AFP), hCG, and estriol levels, usually performed at 15 to 20 weeks' gestation. These tests screen for a variety of genetic problems. 60% of Down Syndrome babies and 80-90% of babies with neural tube defects will be identified by this testing.

Thanks to everyone who participated!

Rules and Case File #1

Okay, here's how this is gonna work. Each case file will be up for roughly a week, then the answer will be posted. One pig point will be given for attempting and two pig points will be given for correct answers. Email your answers to zjgb14@goldmail.etsu.edu with the title PIG's Puzzles

Extra pig points will be given to those that participate or attend certain PIG functions.

Case File #1

A 36-year old woman with little prenatal care delivers a 3900-g girl. The infant has decreased tone, upslanting palpebral fissures, epicanthal fold, redundant nuchal skin, fifth finger clinodactyly and brachydactyly, and a single transverse palmar crease.

What is the most likely diagnosis?

Welcome

This is the brand new website for the Pediatrics Interest Group(PIG). Here you will be able to find the latest news about PIG and PIG events.

Also, this is where you can find PIG's Puzzles! Weekly case files presented on pediatric cases. Readers will be able to send in their answers and have a chance to win prizes for their hard work.