Visual Diagnosis: Multiple Joint Contractures in a Male Newborn

Lincy Cherian; Jacob J. Rosenberg

doi:10.1542/pir.31-9-385

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Lincy Cherian, MD*
Jacob J. Rosenberg^†

^*Pediatric Chief Resident, Nassau University Medical Center, East Meadow, NY.
^†Associate Program Director, Department of Pediatrics, Nassau University Medical Center; Assistant Professor of Clinical Pediatrics, SUNY at Stony Brook, West Hempstead, NY.

Author Disclosure
Drs Cherian and Rosenberg have disclosed no financial relationships relevant to this case. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

Presentation

A male infant is born at 35 weeks' gestation to a 38-year-old G3P2 woman and is admitted to the neonatal intensive care unit (NICU) because of multiple joint contractures (Fig. 1 ). The mother received appropriate prenatal care during pregnancy, during which multiple fetal sonograms revealed a prominent renal pelvis, poor fetal motion and tone, persistent extension of the arms, flexion of the knees, and extension of one ankle. However, maternal morbid obesity limited the ability to achieve full-quality images. A maternal serum screen suggested that the fetus had trisomy 18, but the mother refused additional investigative studies, including amniocentesis.

Figure 1.

A term male newborn who has multiple joint contractures.

Apgar scores are 8 at 1 minute and 8 at 5 minutes. Vital signs are normal for age, and the weight, length, and head circumference are within the 25th percentile for gestational age. Physical examination reveals a flat, open anterior fontanelle; normal-set ears; intact palate; normal cardiovascular, lung, and abdominal examination findings; and normal male genitalia. The infant's hips are rotated externally, the knees are flexed with limited range of motion (ROM) (Fig. 2 ), the …