DEPARTMENT Case Study—Primary Care Microcephaly, Lymphedema, Chorioretinal Dysplasia (MLCRD) Syndrome Maria N. Kelly, MD, Nausheen Khuddus, MD, Silus Motamarry, MD, & Sanjeev Tuli, MD KEY WORDS Microcephaly, lymphedema, chorioretinal dysplasia, MLCRD syndrome, pedal edema, medical home CASE PRESENTATION A male infant presented to clinic for his 2-month well- baby visit. His medical history revealed that he was the product of a full-term uncomplicated pregnancy. At birth, his mother had negative maternal serologies and was rubella immune. The infant was born via cae- sarean section delivery without complications as a result of failure to progress. His newborn examination was significant only for posterior cranial molding and ‘‘am- niotic banding’’ across his toes bilaterally. His family history was not significant for any known medical or ge- netic conditions. At this visit, his mother reported that he was a ‘‘good baby’’ and was breastfeeding well, and she had no concerns. Vital signs for this visit were within normal limits. However, his head circumference, at 34 cm, was less than the third percentile. His weight and height were normal at the 35th and 50th percentiles, respectively (Figure 1). On general appearance he looked well and was making good eye contact. His head appeared small in relation to his body, he had slight occipital molding across the lambdoidal sutures, and his fontanel was small at 1 cm in both directions. He had a red reflex bilaterally and tracked past midline. Results of an exam- ination of the nose, pharynx, and neck were normal. His ears were normally placed but appeared large for his head. His lungs were clear to auscultation, and he had no murmurs. His abdomen was soft and he had a well-healed umbilicus and no hepatosplenomegaly. His testes were descended bilaterally, and he was cir- cumcised. His hips were stable, and his central and dis- tal tone appeared normal. He had a normal grasp and normal Moro and tonic neck reflexes. Examination of his toes revealed linear creases that extended across all five digits bilaterally, but his toes were formed nor- mally with normal nail beds and normal function. Other than mild seborrhea over the frontal aspect of his scalp, Section Editors Jo Ann Serota, DNP, RN, CPNP Corresponding Editor Ambler Pediatrics Ambler, Pennsylvania Beverly Giordano, MS, RN, ARNP University of Florida, Gainesville Gainesville, Florida Donna Hallas, PhD, PNP-BC, CPNP New York University New York, New York Maria N. Kelly, Assistant Professor of Pediatrics, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL. Nausheen Khuddus, Associate Professor of Ophthalmology, Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, FL. Silus Motamarry, Ophthalmology Resident, Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, FL. Sanjeev Tuli, Associate Professor of Pediatrics, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL. Correspondence: Maria N. Kelly, MD, Department of Pediatrics, University of Florida, PO Box 100296, Gainesville, FL 32610; e-mail: kellymn@peds.ufl.edu. J Pediatr Health Care. (2012) 26, 306-311. 0891-5245/$36.00 Copyright Q 2012 by the National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved. Published online October 10, 2011. doi:10.1016/j.pedhc.2011.08.002 306 Volume 26 Number 4 Journal of Pediatric Health Care