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Literature DB >> 8423611

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

G Camera¹, G Ferraiolo, D Leo, A Spaziale, S Pozzolo.

Abstract

A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance.

Entities: Disease

Mesh：

Year: 1993 PMID： 8423611 PMCID： PMC1016238 DOI： 10.1136/jmg.30.1.65

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

4 in total

1. Femoral hypoplasia--unusual facies syndrome.

Authors: D L Daentl; D W Smith; C I Scott; B D Hall; C A Gooding
Journal: J Pediatr Date: 1975-01 Impact factor: 4.406

Review 2. Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

Authors: A Raas-Rothschild; R M Goodman; S Meyer; M B Katznelson; S T Winter; E Gross; M Tamarkin; T Ben-Ami; L Nebel; S Mashiach
Journal: J Med Genet Date: 1988-10 Impact factor: 6.318

3. 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

4. [Defects of the femur and fibula with amelia, peromelia or ulnar defects of the arm. A syndrome].

Authors: D Kühne; W Lenz; D Petersen; H Schönenberg
Journal: Humangenetik Date: 1967

4 in total

3 in total

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

1. Femoral hypoplasia--unusual facies syndrome.

Review 2. Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

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

4. [Defects of the femur and fibula with amelia, peromelia or ulnar defects of the arm. A syndrome].

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

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

3. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE.