Osteocraniostenosis

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

Oligohydramnios

Diminished amniotic fluid volume in pregnancy.


合計: 2

                       


（表示件数）
PMID (PMCID)
15255041
 MIXED_SAMPLE Infant, Newborn
Splenopancreatic field abnormality is not unique to trisomy 13.
Peres LC, Barbosa GH, Careta RS, Nassif CM, de Pina-Neto JM, Giuliani LR, Martinhago CD, Gomy I.
Pediatr Dev Pathol. 2004;7(1):91-4.
In this study, we report four unrelated congenital anomaly cases presenting trisomy 21, osteocraniostenosis syndrome, isolated congenital heart defect, and oligohydramnios sequence due to prune belly syndrome, in which fusion was observed.
12195301
 MIXED_SAMPLE Infant, Newborn
Gracile bone dysplasias.
Kozlowski K, Masel J, Sillence DO, Arbuckle S, Juttnerova V.
Pediatr Radiol. 2002;32(9):629-34.
Two babies had osteocraniostenosis and one had features of oligohydramnios sequence.