Short rib-polydactyly syndrome type III: Comparison of ultrasound, radiology, and pathology findings

Fetal Diagnosis and Therapy

Volumn 16, Issue 3, 2001, Pages 133-138

  Golombeck, Kirstin ^a   Jacobs, Volker R ^a   Von Kaisenberg, Constantin ^a   Oppermann, Hans Conrad ^a   Reinecke Lüthge, Axel ^a   Weisner, Dietrich ^a   Jonat, Walter ^a  

^a UNIVERSITY OF KIEL   (Germany)

Author keywords

Prenatal diagnosis; Short rib polydactyly syndrome; Ultrasound

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; CHONDRODYSPLASIA; HUMAN; LIMB MALFORMATION; PATHOLOGY; POLYDACTYLY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIOLOGY; RECURRENCE RISK; SECOND TRIMESTER PREGNANCY; ULTRASOUND;

ADULT; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; PREGNANCY; SHORT RIB-POLYDACTYLY SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 0035058051     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000053897     Document Type: Article

References (25)

1. Prenatal diagnosis of recurrence of short-rib polydactyly dysplasia
2. Polysyndaktylie, verkürzte gliedmassen und genitalfehlbildungen: Kenn-zeichen eines selbständigen syndroms?
3. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities
4. Short rib-polydactyly syndrome type 3
5. An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydactyly and genital anomalies
6. Les formes néonatales léthales de la dysplasie chondroectodermique
7. Prenatal ultrasonic diagnosis of short-rib polydactyly syndrome (SRPS) type III: A case report and a proposed approach to the diagnosis of SRPS and related conditions
8. Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation
9. Recurrent short rib-polydactyly syndrome with unusual associations
10. Early prenatal diagnosis of short rib polydactyly (SRP) syndrome type I (Majewski) by ultrasound in a case at risk
11. Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening: A case report
12. The lethal osteochondrodysplasias
13. Die klinischen syndrome
14. The scapula as a window to the diagnosis of skeletal dysplasias
15. Short rib-dysplasia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum
16. Short rib-polydactyly syndrome: A single or heterogeneous entity? A re-evaluation prompted by four new cases
17. Short rib-polydactyly syndrome: More evidence of a continuous spectrum
18. Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities
19. Should syndromes be defined phenotypically or moleculary? Resolution of the dilemma