[Fraser syndrome: case report].
Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or associated with other congenital anomalies (reported as an autosomal recessive disorder). RMSA, female, 3 m.o., evaluated in the general clinic of the Instituto Brasileiro de Oftalmologia e Prevenção à Cegueira. Child of consanguineous parents. The same finding was observed in an uncle and one of her brothers. Her physical examination showed total unilateral cryptophthalmos (right side), depressed nasal bridge, low set ears, atresia of the external auditory canal, enlarged clitoris, prominent labia majora and syndactyly of the fingers and toes. Ultrasonography of the abdomen showed renal agenesis (left side). Ocular ultrasonography showed a reduced anterior-posterior ocular diameter, anterior segment disorganization, absence of the lens and total retinal detachment in the right eye. The pathogenesis of cryptophthalmia has not as yet been determined, but consanguinity has been reported by many authors as a very important factor. Doctors should be attentive to the clinical findings and the correct diagnosis in order to offer these patients a thorough follow-up and realistic genetic counseling to their parents.
Saraceno
Janaína
J
Instituto Brasileiro de Oftalmologia e Prevenção da Cegueira, Brasil. janasaraceno@hotmail.com
Lopes
Tâmara
T
Pinheiro
Regina Helena Rathsam
RH
Lima
Humberto Castro
HC
Chaves
Alessandra Pinheiro
AP
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D003241:Consanguinity; D005124:Eye Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D007830:Larynx / Q000002:abnormalities; D009666:Nose / Q000002:abnormalities*; D013576:Syndactyly / Q000175:diagnosis*; D013577:Syndrome; D014463:Ultrasonography