{'fraction_non_alphanumeric': 0.030819140308191405, 'fraction_numerical': 0.0016220600162206002, 'mean_word_length': 5.81767955801105, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Carey-Fineman-Ziter syndrome: a spectrum of presentations

Abstract Carey-Fineman-Ziter syndrome is characterized by facial diplegia with an ophthalmoplegia comprising the Moebius sequence, Pierre Robin sequence with micrognathia, short stature, postnatal-onset microcephaly, hypotonia and muscular hypoplasia, extensive brainstem involvement, and pontine hypoplasia. We report a 38-week-gestation infant with features consistent with Carey-Fineman-Ziter syndrome but with phenotypical features that have not previously been described. The infant had severe hypoplasia of the pons and cerebellum, seizures, hypotonia, ophthalmoplegia, downslanting palpebral fissures, tongue hypoplasia, micrognathia, and facial diplegia. The karyotype was normal. Of note, there was a focal contour abnormality in the anterior two-thirds of the tongue, which necessitated tracheostomy on the third day of life to maintain the airway, and a well-circumscribed mass on both sides of the chest. These features have not been previously found to be associated with this syndrome, and the clinical significance is unknown. Case reports of rare disorders give significant information on the diagnosis, description, and evolving phenotype of rare syndromes.