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Subtle dysmorphic features in a 1-month-old infant

Manuel Lima Ferreira¹, Bárbara Costa Correia¹, Teresa Cachada Baptista¹, Fábio Barroso¹, Mário Laço², Leonilde Machado¹
¹Pediatrics and Neonatology Department, Unidade Local de Saúde Tâmega e Sousa, Penafiel, Portugal, ²Medical Genetics Unit, Unidade Local de Saúde Tâmega e Sousa, Penafiel, Portugal

Address for Correspondence: Manuel Lima Ferreira, Avenida do Hospital Padre Américo, Nº 210, 4560-136, Guilhufe - Penafiel, Portugal. Email: maneljlferreira@gmail.com

Keywords: Macroglossia, Beckwith-Wiedemann syndrome, Molecular diagnosis, Ear lobe creases

Clinical Problem:
A previously healthy 1-month-old male infant was admitted to the pediatric ward due to a febrile urinary tract infection caused by Escherichia coli. On physical examination macroglossia and bilateral ear lobe creases were noted (Figure 1). No other dysmorphic features were documented to date by other health care professionals during routine well-child visits. The infant appeared well, with appropriate neurodevelopment for age. The clinical course during hospitalization was uneventful.
He had been delivered at 39 weeks and 2 days of gestation via cesarean section following a pregnancy complicated with gestational diabetes and maternal hypertension. Maternal serologic and viral screenings were unremarkable and screening for Group B Streptococcus was negative. Prenatal ultrasounds showed no structural abnormalities. Apgar scores at 1 and 5 minutes were 9 and 10, respectively. Birth anthropometric parameters were appropriate for gestational age (weight 3786 g, length 50.0 cm and head circumference 33.0 cm). Routine neonatal screenings showed no abnormalities. He was discharged on mixed feeding and demonstrated adequate growth and neurodevelopment. Family medical history was unremarkable.
The infant was referred to pediatrics and medical genetics appointment for further evaluation of the dysmorphic features.

Figure 1. Clinical images of the 1-month-old infant obtained during hospitalization demonstrating macroglossia (left) and ear lobe creases (right), noted during physical examination.