Visual Diagnosis: Monozygotic Twins Who Have Congenital Heart Disease and Distinctive Facial Features

Nibal Zaghloul; R. Gordon Hutcheon; James H. Tepperberg

doi:10.1542/pir.23-10-365

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Nibal Zaghloul, MD*
R. Gordon Hutcheon, MD†
James H. Tepperberg, PhD‡

^*Department of Pediatrics, St. Joseph’s Children’s Hospital, Paterson, NJ.
^†New York Foundling Hospital Pediatric Center, New York, NY.
^‡LabCorp, Research Triangle Park, NC.

Presentation

Two-year-old identical twin boys share a history of unusual facial features and congenital heart disease. At 4 months of age, both boys had broad foreheads; fullness around the eyes; a stellate pattern within their irises; wide, flat nasal bridges with wide, upturned nasal tips; long philtrums; full cheeks; small chins; prominent lower lips; and oval ears (Fig. 1).

Figure 1.

Monozygotic twin boys at age 4 months. Each boy has a wide, flat nasal bridge, periorbital fullness, a long philtrum, a prominent lower lip, full cheeks, and oval ears.

The twins were born at 38 weeks’ gestation to a 28-year-old G₂ P₁ Ab₀ woman. During pregnancy, fetal ultrasonography demonstrated a multicystic, dysplastic left kidney in twin A.

At birth, twin A weighed 2.2 kg. Neonatal ultrasonography confirmed the presence of a multicystic, dysplastic left kidney. Evaluation of a persistent heart murmur revealed severe pulmonary valve stenosis, a ventricular septal defect, and right ventricular hypertrophy, conditions that required corrective surgery at 1 year of age. Twin A also underwent surgical repair of bilateral inguinal hernias at 7 months of age. His height, weight, and head circumference have always followed the 5th percentile.

Twin B’s medical history is similar. He weighed 3.1 kg at birth and was found to have a patent ductus arteriosus, a ventricular septal defect, and right peripheral pulmonary artery stenosis. …