Fused Eyelids in a Preterm Baby

Abstract

A preterm female baby presents with respiratory distress and multiple congenital anomalies (Figure 1).On physical examination, the infant’s weight was 1,600, length was 43 cm, and head circumference was 30 cm. The most distinctive feature was bilateral partially fused eyelids (Figure 1). Additional dysmorphic features included absent eyelashes, broad nasal bridge, hypertelorism, hypertrichosis of the forehead, prominent occiput, micrognathia, low-set ears, overlapping fingers, and rocker bottom feet. Nasal continuous positive airway pressure ventilation was administered for respiratory distress. Cardiac examination revealed a hyperactive precordium and a 3/6 systolic murmur at the precordium. Ventricular septal defect (VSD), atrial septal defect (ASD), and patent ductus arteriosus (PDA) were diagnosed with echocardiography. The cardiac valves were also noted to be very flexible. Cranial and abdominal ultrasonography appeared normal. The fused eyelids were divided by surgical procedure without intravenous or local anesthesia. Neither bleeding nor underlying ocular abnormalities was observed.Chromosomal analysis confirmed the diagnosis of trisomy 18.AFA is very rare defect that is characterized by partial or complete adhesion of the ciliary edges of the upper and lower eyelids. Although it has been reported as an isolated malformation, it also is seen with several disorders. Rosenman and associates(1) proposed classifying AFA into four groups:Bacal and colleagues suggested a fifth group of AFA in association with chromosomal abnormalities. (2) Williams and coworkers reported a family history of isolated AFA, suggesting yet another new group. (3) The association of AFA with trisomy 18, as seen in our case and in some previously reported cases , fits in group 5. (4)(5) Numerous cardiac defects have been associated with trisomy 18. A variety of anomalies, such as VSD, ASD, and PDA, have also been described in cases of AFA with trisomy 18. The most distinctive echocardiographic finding in this case was flexible cardiac valves.Surgical therapy, which is important to prevent visual system abnormalities, may be performed under general or local anesthesia. Williams’ group(3) performed the surgical procedure without general or local anesthesia and reported no bleeding or complications. The fused eyelids were divided without intravenous or local anesthesia in our patient with no complications.JoDee M. Anderson, MD, MEd, Division of Neonatal Medicine, Oregon Health & Science University, Portland, OR.