Grebe dysplasia - prenatal diagnosis based on rendered 3-D ultrasound images of fetal limbs.
Grebe dysplasia is a rare skeletal dysplasia characterized by severe acromesomelic shortening of the long bones in a proximal to distal gradient of severity, with bones of the hands and feet more severely affected than those of the forearms and legs, which in turn are more severely affected than the humeri and femora. In addition, the bones of the lower extremities tend to be more severely affected than the bones of the upper extremities. Despite the severe skeletal deformities, the condition is not lethal and surviving individuals can have normal intelligence. Herein we report a case of Grebe dysplasia diagnosed at 20 weeks of gestation. Rendered 3-D ultrasound images of the fetal limbs, particularly of the characteristic tiny and globular-looking fingers and toes, were instrumental in accurately characterizing the phenotype prenatally.
Department of Obstetrics and Gynecology, Division of Fetal Imaging, Oakland University William Beaumont School of Medicine, 3601 W. 13 Mile Road, Royal Oak, MI, 48073, USA. Luis.Goncalves@beaumont.org.|Department of Radiology, Division of Pediatric Radiology, Oakland University William Beaumont School of Medicine, Royal Oak, MI, USA. Luis.Goncalves@beaumont.org.
Luis F
LF
Goncalves
Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Oakland University William Beaumont School of Medicine, Royal Oak, MI, USA.
Julie A
JA
Berger
Department of Pathology, Oakland University William Beaumont School of Medicine, Royal Oak, MI, USA.
Jacqueline K
JK
Macknis
Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Oakland University William Beaumont School of Medicine, Royal Oak, MI, USA.
Samuel T
ST
Bauer
Department of Radiology, Division of Pediatric Radiology, Oakland University William Beaumont School of Medicine, Royal Oak, MI, USA.|Department of Pediatrics, Oakland University William Beaumont School of Medicine, Royal Oak, MI, USA.
David A
DA
Bloom
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005313:Fetal Death; D006801:Humans; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D010641:Phenotype; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
Fetus; Grebe dysplasia; Limbs; Prenatal diagnosis; Skeletal dysplasia; Three-dimensional; Ultrasound
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