A further case of opsismodysplasia with hydrocephalus.
We present a case of opsismodysplasia, a very rare skeletal dysplasia, in a term newborn female who had short length, short extremities and markedly short fingers. Radiological studies demonstrated severe platyspondyly, absence of epiphyseal ossification centers, short tubular bones, especially severe in hands and feet, with metaphyseal cupping. She also had hydrocephaly, a rare finding in opsismodysplasia. In our literature review we have found 24 cases, 17 born alive and seven terminations of pregnancy (TOPs).
Ramos
Feliciano J
FJ
Dpto. de Pediatría, Serv. Neonatología y Genética, Hospital Clínico Universitario, Facultad de Medicina, Universidad de Zaragoza, C/ Domingo Miral s/n, Zaragoza 50009, Spain. framos@unizar.es
González
Juan P
JP
Cortabarria
Carmen
C
Domenech
Eduardo
E
Pérez-González
José
J
Bueno
Manuel
M
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001848:Bone Diseases, Developmental / Q000151:congenital / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology*; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000235:genetics; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000235:genetics