title: Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings: a new autosomal recessive syndrome or a variant of Fraser syndrome?
abstract: We describe two siblings of unlike gender born to non-consanguineous parents, with similar and unique congenital malformations. These include fused eyelids, craniofacial anomalies, ovarian cyst, subglottic stenosis, specific digital abnormalities, and no detected chromosomal abnormality. The specific digital abnormalities in both patients are characterized by extension of metacarpophalangeal joints with flexion of the proximal interphalangeal joint of both index fingers with resulting overlap of the second digit over the third. Similar changes were noted in both second toes. The brain weight of both infants was less than that expected for their birth weights. We reviewed the differential diagnosis of fused eyelids, airway anomalies, and ovarian cysts, and the manifestations resemble those seen in Fraser syndrome. We conclude that the dissimilarities warrant considering that our patients have a distinct autosomal recessive syndrome.
authors.affiliation: Department of Pediatrics, University of Alabama, Birmingham 35294.
authors.forename: W
authors.initials: W
authors.lastname: Mena
authors.forename: N
authors.initials: N
authors.lastname: Krassikoff
authors.forename: J B
authors.initials: JB
authors.lastname: Philips
mesh_terms: D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008297:Male; D010048:Ovarian Cysts / Q000151:congenital*; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome