Raine dysplasia: a Brazilian case with a mild radiological involvement.
We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity.
Acosta
A X
AX
Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil.
Peres
L C
LC
Chimelli
L C
LC
Pina-Neto
J M
JM
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D001176:Arthrogryposis / Q000000981:diagnostic imaging / Q000235:genetics; D001938:Brazil; D005094:Exophthalmos / Q000000981:diagnostic imaging / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities*; D017809:Fatal Outcome; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging* / Q000235:genetics; D010026:Osteosclerosis / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D012886:Skull / Q000002:abnormalities