SCIENTIFIC
Phenotypic Variability in a Mother and Son with Cat Eye Syndrome
AUTHORS:
ABSTRACT
Courtney Rosencrance, MD 1 Pediatrics Resident
Mark J. Polak MD 1 Professor
Rebecca J. Burke MD, PhD 1, 2 Assistant Professor
AFFILIATIONS:
1
West Virginia University School of Medicine, Morgantown, WV
2
Penn State Children ' s Hospital, Hershey, PA
CORRESPONDING AUTHOR: Mark J. Polak, MD
DISCLOSURES: None
ETHICS STATEMENT: Permission obtained from family
FUNDING: None
CASE PRESENTATION
A late preterm appropriate-for-gestational-age male infant was admitted to the neonatal intensive care unit( NICU) immediately following delivery due to a prenatal concern for congenital heart disease and suspected congenital imperforate anus discovered on initial physical examination in the infant evaluation room as described below. He was born at a gestational age of 36 weeks and four days to a 37-year-old Gravida 3 Para 2 mother via spontaneous vaginal delivery. The pregnancy was complicated by mild cervical shortening and suspected fetal congenital heart disease. There were no maternal exposures to alcohol, tobacco, or illicit substances during the pregnancy. Maternal medications included sertraline 100 mg daily and a prenatal vitamin-iron-folate tablet daily. There was a history of maternal influenza infection in the first
Cat Eye Syndrome( CES) is a rare genomic condition characterized by supernumerary chromosome 22 derivatives or intrachromosomal duplication or triplication. Clinical features vary and include coloboma of the irises, anal atresia, cardiac anomalies, urogenital anomalies, craniofacial anomalies, and varying degrees of developmental delay. The variable expressivity of this condition, combined with its infrequent incidence, makes CES a challenging diagnosis, even among affected members of the same family. In our case, we present a
trimester, though no other illnesses were noted. All maternal prenatal laboratory studies were within normal limits, including a cell-free DNA screening that resulted in low risk. A detailed anatomy scan was performed at 28 weeks gestation, demonstrating abnormal cardiac anatomy, but otherwise no other abnormalities. A fetal echocardiogram was performed at 31 weeks gestation, revealing findings for tetralogy of Fallot( TOF). Delivery was at 36 weeks and four days but was otherwise uncomplicated with routine resuscitation measures provided. Neonatal APGAR scores were seven at one minute and nine at five minutes. The infant did not require supplemental oxygen or other methods of respiratory support at birth.
mother and son with non-identical features, and genetic testing revealed a quadruplication in the chromosome 22q11.1q11.21 regions for both individuals. No features of this condition are invariably present, so a high index of clinical suspicion is necessary to make the diagnosis. Recognition of this syndrome and identification of the molecular basis for each individual is essential for appropriate medical management, surveillance, and genetic counseling for affected patients and families.
The infant’ s anthropomorphic measures at birth were as follows: weight of 2.58 kg( 26th percentile on Fenton Premature Boys Curve), length of 49 cm( 69th percentile on Fenton Premature Boys Curve), and fronto-occipital circumference of 31 cm( 8th percentile on Fenton Premature Boys Curve). Pertinent vital signs included an axillary temperature of 36.6 ° C, a heart rate of 152 bpm, blood pressure of 71 / 36 mmHg, respiratory rate of 44 breaths per minute, and oxygen saturation of 92 % on room air. His physical examination was significant for a long, smooth philtrum with a thin upper vermilion. He had normal spacing of eyes with down-slanting palpebral fissures and epicanthus inversus. Coloboma of irises were not appreciated. He had an abnormal anal opening, with a membrane partially covering the orifice through which a catheter could not pass. An anal wink reflex was present.
Laboratory studies were normal, including a complete blood count, serum glucose, venous blood gas, newborn state screen, and negative blood cultures at five days. A postnatal transthoracic echocardiogram confirmed TOF without a significant right ventricular outflow tract obstruction.
Due to the presence of congenital heart disease, dysmorphic facial features, and imperforate anus in the setting of a significant family history of maternal imperforate anus, a medical genetics consultation was obtained. A detailed family history revealed a maternal history of imperforate anus with rectovaginal fistula and bilateral pre-auricular pits. The proband’ s mother required pressure equalizing tube placement several times in her childhood. The proband’ s father was healthy and had no significant medical history. The infant had two maternal half-siblings and one paternal half-sibling who were healthy with reported typical neurodevelopment.
High-resolution chromosome analysis and chromosomal microarray analysis revealed a male karyotype with a marker chromosome consisting of a quadrupli-
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