To the Editor : We describe the second case of a mother-daughter with the fronto-ocular syndrome (FOS). Our patients had all the features described in the original report, in addition to two anomalies not previously described. FOS is a newly recognized trigonocephaly syndrome which was first described by Schneider et al. ( 1 ) in a mother and her two daughters. The associated features are trigonocephaly due to coronal and metopic craniosynostosis, a narrow bi-frontal region, ocular hypotelorism, ocular proptosis and ptosis, epicanthic folds, hypoplastic supraorbital ridges, an elevated nasal bridge, a thin philtrum, and a high-arched palate ( 1 ). Additional features include congenital heart defects [atrial septal defect (ASD) and pulmonary valve stenosis] and mild developmental delays. The purpose of this report is to present a second instance of mother-daughter transmission of FOS, and thereby further delineate the clinical findings in this rare condition. The patient was the first child born to a 30-year-old G2P1 mother and a 44-year-old father. She was born at week 38 of gestation by cesarean section, scheduled due to breech presentation. The pregnancy was complicated by maternal insulin-dependent diabetes that predated her pregnancy. Birth weight was 2.9 kg (25th), length 48.3
Clinical Genetics – Wiley
Published: Jun 1, 2004
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