A female newborn presents with abnormalities on her hands, feet, cranium, and face.
The infant has an atypical appearance characterized by midfacial hypoplasia, craniosynostosis, a cone-shaped calvarium (acrocephaly), hypertelorism, pseudocleft-palate, a parrot beak–shaped nose, and syndactyly of hands and feet. She was referred to our clinic.
The infant was hospitalized and received oxygen therapy with hood. We opened the left choana with a catheter during examination.
There is syndactyly between the third and fourth fingers on the hands. On the feet there is syndactyly between the fourth and fifth toes on the right but no fusion on the left (Figure 3).
On transfontanel ultrasonography of the bilateral periventricular areas, there is increasing echogenicity concordant with grade 1 hemorrhage, and continuity of the corpus callosum is not apparent. Abdominal ultrasonography results are normal. After consultation with a pediatric cardiologist and echocardiography, only patent foramen ovale is found. On paranasal...