Cryptophthalmos Syndrome (Fraser Syndrome) with Cardiac Findings in a Saudi Newborn

Abstract

Fraser syndrome (cryptophthalmos syndrome) is a rare autosomal recessive disorder. 1 The most consistent features are cryptophthalmos, a broad and depressed nasal bridge, malformed ears, syndactyly of fingers and toes, abnormal genitalia, craniofacial skeletal defects, renal agenesis, and laryngeal stenosis. These anomalies were first documented by Fraser in 1962. 2 We report the case of a full-term newborn who had multiple abnormalities consistent with cryptophthalmos syndrome. In addition, the newborn had a total anomalous pulmonary venous return (TAPVR), which is a new finding in patients with this syndrome. To the best of our knowledge, this is the first report of Fraser syndrome with cardiac lesion (TAPVR) in a Saudi infant. Case ReportA 29-year-old Saudi woman, gravida 7 para 4, had a history of two abortions and three healthy children. She also had a history of a spontaneous vaginal delivery of a male infant with multiple malformations, including complete cryptophthalmos in both eyes, small malformed ears, syndactyly of all fingers, and cleft lip. The infant died 30 minutes after birth in a peripheral hospital, and thus, details were not available.The parents of this infant were second-degree cousins, and his cousin on the paternal side died immediately after birth with similar features. Ultrasound examination of the mother at 28 weeks' gestation demonstrated fetal ascites and unidentified urinary bladder and absent kidneys. At 33 weeks' gestation, ultrasound showed ascites, small left kidney, absent right kidney, thick-walled bladder, oligohydramnios, and increased echogenicity of the right lung. Fetal echocardiogram showed evidence of TAPVR and pericardial effusion. Screening for toxoplasmosis, rubella, syphilis, herpes simplex and cytomegalovirus was negative. Chromosomal study revealed normal male karyotype (46,XY). Pregnancy was induced at 39 weeks and the mother gave birth to a dysmorphic infant who never established spontaneous respiration. Bag and mask ventilation was initiated, but the infant died 20 minutes after delivery. The birth weight was 3.13 kg, length was 47 cm, and head circumference was 32 cm. He was found to have complete cryptophthalmos on the right side and partial cryptophthalmos in the left eye with no eyelashes or eyebrows, and the skin passed unbroken from the brow to cheek (Figure 1). A broad and depressed nasal bridge, soft tissue syndactyly of all fingers and toes and hypoplastic scrotum with bilateral cryptorchidism, were noted in the infant (Figure 2). Furthermore, severe laryngeal stenosis resulted in failure of several attempts of intubation with 2.5 mm endotracheal tube. The chest x-ray showed unareated lung with an opaque lesion in the right middle and lower lobes. Postmortem examination was not permitted by the family.

Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria

“…The patent ductus arteriosis and patent foramen ovale co‐occurred in two patients. Cardiac anomalies are well known to occur in FS patients [Brownstein et al, 1976; Bieber et al, 1982; Burn and Marwood, 1982; Lurie and Cherstvoy, 1984; Boyd et al, 1988; Ramsing et al, 1990; Chattopadhyay, 1993; Aqeel and Al‐Alaiyan, 1999; Hambire et al, 2003].…”

Fraser Syndrome: A Case Report

“…Numerous other malformations have been described as part of this syndrome: ENT malformations: (ear dysplasia, conductive deafness, bifid nose, broad nasal root, laryngomalacia, laryngeal atresia and choanal atresia), urogenital malformations: (renal agenesis, uni or bilateral kidney hypoplasia, hypospadias, epispadias, testicular ectopy, micropenis, bicornuate uterus and hymenal imperforation), and anal imperforations. More rarely, cerebral and neurological malformations such as microcephaly, myelomeningocele, encephalocele and cardiac anomalies [8] have been reported.…”

Síndrome de Fraser: reporte de un caso

“…12,13 Las malformaciones cardiacas en SF se mencionan muy poco y se desconoce su frecuencia. 14 Con respecto a la consanguinidad, aunque es negada, no se puede descartar por completo debido a que los progenitores vienen de una aldea pequeña donde por lo general los habitantes son parientes en algún grado de consanguinidad. 15 En cuanto a los hallazgos del laboratorio al ingreso se atribuyen a una sepsis neonatal.…”