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Literature DB >> 3066902

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

A Raas-Rothschild¹, R M Goodman, S Meyer, M B Katznelson, S T Winter, E Gross, M Tamarkin, T Ben-Ami, L Nebel, S Mashiach.

Abstract

A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.

Entities: Disease

Mesh：

Year: 1988 PMID： 3066902 PMCID： PMC1051563 DOI： 10.1136/jmg.25.10.687

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

9 in total

1. The SC phocomelia and the Roberts syndrome: nosologic aspects.

Authors: J Herrmann; J M Opitz
Journal: Eur J Pediatr Date: 1977-06-01 Impact factor: 3.183

2. Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome).

Authors: B D Hall; M H Greenberg
Journal: Am J Dis Child Date: 1972-06

3. A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities.

Authors: N Freire-Maia
Journal: Am J Hum Genet Date: 1970-07 Impact factor: 11.025

4. Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.

Authors: S A Al-Awadi; A S Teebi; T I Farag; K M Naguib; M Y el-Khalifa
Journal: J Med Genet Date: 1985-02 Impact factor: 6.318

5. Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities.

Authors: E Cherstvoy; G Lazjuk; I Lurie; T Ostrovskaya; I Shved
Journal: Lancet Date: 1980-08-30 Impact factor: 79.321

6. Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia.

Authors: A Freire-Maia
Journal: Am J Med Genet Date: 1981

7. Grebe chondrodysplasia and brachydactyly in a family.

Authors: D Kumar; D Curtis; C E Blank
Journal: Clin Genet Date: 1984-01 Impact factor: 4.438

8. Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.

Authors: W Fuhrmann; A Fuhrmann-Rieger; F de Sousa
Journal: Eur J Pediatr Date: 1980-03 Impact factor: 3.183

9. Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).

Authors: K Anyane-Yeboa; S Jaramillo; C Nagel; B Grebin
Journal: Am J Med Genet Date: 1985-04

9 in total

8 in total

1. Limb/pelvis/uterus-hypoplasia/aplasia syndrome.

Authors: A S Teebi
Journal: J Med Genet Date: 1993-09 Impact factor: 6.318

2. The possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome.

Authors: M A Sabry
Journal: J Med Genet Date: 1994-11 Impact factor: 6.318

3. The newly recognised skeletogenital syndrome.

Authors: T I Farag
Journal: J Med Genet Date: 1994-06 Impact factor: 6.318

Review 4. Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors: A S Teebi
Journal: J Med Genet Date: 1994-03 Impact factor: 6.318

Review 5. Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.

Authors: G Camera; G Ferraiolo; D Leo; A Spaziale; S Pozzolo
Journal: J Med Genet Date: 1993-01 Impact factor: 6.318