An 18-hour-old girl is undergoing a routine examination in the newborn nursery. The patient has urinated 4 times and passed meconium. She was born via uncomplicated vaginal delivery at 41 weeks to a 23-year-old primipara. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. Birth weight and length are at the 25th percentile for gestation. Temperature is 37.2 C (99 F). The patient is initially asleep but easily roused. Examination shows open and soft fontanelles, posteriorly rotated ears, and a small maxilla. The soft palate has a high arch, but no submucosal cleft is felt on palpation. The neck is short and webbed, without masses. Auscultation reveals a regular heart rate and rhythm with no murmurs. There is good air entry in all fields with no grunting, retractions, or nasal flaring. External genitalia are normal. The hands and feet are moderately edematous. Crease lines on both hands are normal. Pulses are 2+ in all extremities. Item 1 of 2 Which of the following is the most likely long-term outcome for patients with this condition?

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Explanation: 11ec2b69_bfe3_cb10_8f63_7760e2b62931_MD0005_00 This newborn's webbed neck and congenital lymphedema of the hands and feet are concerning for Turner syndrome. Other distinctive features include a broad chest with widely spaced nipples, high-arched palate, and low posterior hairline. These key physical findings warrant urgent diagnostic confirmation with karyotype analysis. Once diagnosed, patients require 4-extremity blood pressure measurements and echocardiography to look for aortic coarctation, which, if unrecognized, can cause life-threatening cardiogenic shock in the newborn. Ultrasound should be ordered to screen for horseshoe kidney, which can predispose to urinary tract infections. Every few years during childhood, screening for hypothyroidism and celiac disease should occur due to an increased risk of these autoimmune conditions. In addition, because of an increased risk of learning disabilities, neuropsychological testing is performed prior to school entry to ensure that appropriate therapies can be provided if needed. However, normal intelligence is expected. (Choice A) Autism spectrum disorder often occurs in patients with fragile X syndrome. This disorder is more common in boys and classically causes long, narrow faces, large ears, and large testicles. (Choice B) Developmental regression, as well as microcephaly, epilepsy, and stereotypic hand movements, typically develops in Rett syndrome. Girls with this disorder appear normal at birth and have no dysmorphic features. (Choice C) Early-onset Alzheimer dementia is associated with trisomy 21, which is characterized by upslanting palpebral fissures, epicanthal folds, and a transverse palmar crease, none of which are seen in this patient. (Choice D) Epilepsy is common in many syndromes, such as trisomies 13 and 18 and Rett syndrome. However, it is not a typical comorbidity in Turner syndrome. Educational objective: Characteristic features of Turner syndrome include a webbed neck and congenital lymphedema. Normal intelligence is expected, but patients should be monitored for increased risk of learning disabilities. References: Cognition and behavior in Turner syndrome: a brief review. (http://www.ncbi.nlm.nih.gov/pubmed/22946281)

An 18-Hour-Old Girl Is Undergoing a Routine Examination in the Newborn