Visual Diagnosis: Infant With Growth Failure, Body Asymmetry, and Dysmorphic Features

Deepa Prasad; Valerie Navarrete; Srividya Naganathan

doi:10.1542/pir.34-5-e17

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Deepa Prasad, MD*
Valerie Navarrete, MD^†
Srividya Naganathan, MD, FAAP^‡

^*Chief Resident, Department of Pediatrics, Jersey Shore University Medical Center, Neptune, NJ.
^†Pediatric resident, Jersey Shore University Medical Center, Neptune, NJ.
^‡Assistant professor of Pediatrics, UMDNJ, Pediatric clerkship site director, Jersey Shore University Medical Center, Neptune, NJ.

Presentation

A 5-month-old girl is admitted to the hospital by her pediatrician for evaluation of failure to thrive. The mother reports that her daughter has always been small and that she feels her daughter is not gaining weight as expected despite feeding her 24 ounces of a 22-calorie-per-ounce premature formula each day (135 kcal/kg per day). The mother also expresses concern that her daughter has a large head, developmental delays, and a right leg that is growing longer than the left. Evaluation by an orthopedic surgeon found no evidence of hip dysplasia.

The infant’s past medical history reveals an uncomplicated premature birth at 35 weeks’ gestation via vaginal delivery. Her birthweight was 2 pounds and 14 ounces (<2 standard deviations [SD] from mean), which plotted as small for gestational age. She was hospitalized for 3 weeks for feeding and growth monitoring.

Review of systems is negative for vomiting, diarrhea, swallowing difficulties, or weight loss. She is not on any medications, and her immunizations are up to date. She is an only child and there is no history of consanguinity. Family history is unremarkable.

Physical examination reveals an alert, active, thin baby whose vital signs are normal for age. Her weight is 3.9 kg (<-3 SD from mean, according to World Health Organization Growth charts), length is 21 inches (<-3 SD from mean), head circumference is 16 inches (between 0 and -1 SD). Her head appears large in relation to the rest of her body, and she has a prominent forehead (Fig 1). Her right leg has larger girth and is 1 inch longer than the left leg (Fig 2). Further examination of her extremities reveals clinodactyly of her fifth fingers (Fig 3). She has poor head control and mild generalized hypotonia. The remainder of her …