Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation

Clinical Features

Ramos-Arroyo et al. (1987) described a sister and brother with a seemingly 'new' syndrome consisting of hypesthetic corneas, absence of peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, persistent ductus arteriosus (see 607411), moderate mental retardation, and unusual facial appearance consisting of hypertelorism, flat facial profile, frontal bossing, depressed nasal bridge, and midfacial hypoplasia. The mother had mild to moderate sensorineural hearing loss, retinal changes, and somewhat similar facial features. A large patent ductus arteriosus was closed surgically in the daughter but closed spontaneously in the son. Corneal anesthesia was a main factor in bringing the children to medical attention.

Spurrier and Weaver (2008) reexamined the family originally described by Ramos-Arroyo et al. (1987), including 2 additional affected individuals. At age 18 years, the previously reported brother developed chronic constipation; anorectal manometry was consistent with a diagnosis of Hirschsprung disease, and colon biopsy showed ganglion cell heterotopia and hypoganglionosis in the right transverse colon. The sister had 4 children, the oldest and youngest of which were reported to have frontal bossing and midface hypoplasia, but no corneal anesthesia, hearing loss, heart defects, or gastrointestinal defects. Her middle son and daughter, aged 4.3 and 1.75 years, respectively, displayed the distinct facies, corneal anesthesia, and sensorineural hearing defect. The daughter also had an atrial septal defect, hydronephrosis of the right kidney, and apneic spells for which she underwent adenotonsillectomy, supraglottoplasty, and elective tracheostomy; the son had mental retardation and Hirschsprung disease. Chromosomal analysis and urine screen for metabolic disorders were normal in the brother and sister and the sister's affected son and daughter.

Inheritance

Spurrier and Weaver (2008) stated that the Ramos-Arroyo syndrome appeared to be an autosomal dominant disorder with incomplete penetrance.