Limb/pelvis-hypoplasia/aplasia syndrome-further delineation of phenotype

Fetal and Pediatric Pathology

Volumn 30, Issue 6, 2011, Pages 355-358

  Gupta, Neerja ^a   Kabra, Madhulika ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Hydrops; Limb deficiency defects; Limb pelvis hypoplasia aplasia syndrome

Indexed keywords

AL AWADI RAAS ROTHSCHILD SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; CASE REPORT; FACE DYSMORPHIA; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; GENETIC COUNSELING; HUMAN; HUMAN TISSUE; LIMB MALFORMATION; PHENOTYPE; PLEURA EFFUSION; PREGNANCY TERMINATION; PRIORITY JOURNAL; THORAX MALFORMATION;

ABNORMALITIES, MULTIPLE; FACE; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL; LUNG; PELVIS; PHENOTYPE; PREGNANCY; SYNDROME;

EID: 80755143739     PISSN: 15513815     EISSN: 15513823     Source Type: Journal    
DOI: 10.3109/15513815.2011.587703     Document Type: Article

References (8)

1. Al-Awadi SA, Teebi AS, Farag TI, Naguib KM, El-Khalifa MY. Profound limb defciency, thoracic dystrophy, unusual facies, and normal intelligence: A new syndrome. J Med Genet 22:36-38, 1985. (Pubitemid 15165324)
2. Raas-Rothschild A, Goodman R, Meyer S, Katznelson M, Winter S, Gross E, Tamarkin M, Ben-Ami T, Nebel L, Mashiach S. Pathological features and prenatal diagnosis in the newly recognised limb/pelvis hypoplasia/aplasia syndrome. J Med Genet 25:687-697, 1988.
3. Schinzel A. Phocomelia and additional anomalies in two sisters. Hum Genet 84:539-541, 1990. (Pubitemid 20158815)
4. Fuhrmann W, Fuhrmann-Rieger A, de Sousa F. Poly-, syn and oligodactyly, aplasia or hypoplasia of fbula, hypoplasia of pelvis and bowing of femora in three sibs-a new autusomal recessive syndrome. Eur J Pediat 133:123-129, 1980. (Pubitemid 10129470)
5. Subhani M, Akangire G, Kulkarni A, Wilson GN. Al-Awadi/Raas-Rothschild/ Schinzel (AARRS) phocomelia syndrome: Case report and developmental feld analysis. Am J Med Genet Part A 149A:1494-1498, 2009.
6. Johnson RL, Tabin CJ. Molecular models for vertebrate limb development. Cell 19:979-990, 1997. (Pubitemid 27408512)
7. Woods CG, Stricker S, Seemann P, Stern R, et al. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet 79:402-408, 2006. (Pubitemid 44141841)
8. Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: Overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82:304-319, 2008.