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Literature DB >> 8423610

The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

T I Farag¹, S A al-Awadi, M J Marafie, L Bastaki, S A al-Othman, F M Mohammed, I S AlSuliman, D S Murthy.

Abstract

A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

Entities: Disease Species

Mesh：

Year: 1993 PMID： 8423610 PMCID： PMC1016237 DOI： 10.1136/jmg.30.1.62

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

8 in total

Review 1. Membrane assembly: synthesis and intracellular processing of the vesicular stomatitis viral glycoprotein.

Authors: H F Lodish; F N Katz; J E Rothman; D M Knipe
Journal: Birth Defects Orig Artic Ser Date: 1978

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. Unilateral and asymmetric limb defects in man: delineation of the femur-fibula-ulna complex.

Authors: W Lenz; U Feldmann
Journal: Birth Defects Orig Artic Ser Date: 1977

5. The femur, fibula, ulna (FFU) complex in siblings.

Authors: J Zlotogora; E Rosenmann; M Menashe; G C Robin; T Cohen
Journal: Clin Genet Date: 1983-12 Impact factor: 4.438

6. [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

7. Genetics and limb deficiencies.

Authors: W Lenz
Journal: Clin Orthop Relat Res Date: 1980-05 Impact factor: 4.176

Review 8. Fibular a/hypoplasia: review and documentation of the fibular developmental field.

Authors: S O Lewin; J M Opitz
Journal: Am J Med Genet Suppl Date: 1986

8 in total

4 in total

The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

Review 1. Membrane assembly: synthesis and intracellular processing of the vesicular stomatitis viral glycoprotein.

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. Unilateral and asymmetric limb defects in man: delineation of the femur-fibula-ulna complex.

5. The femur, fibula, ulna (FFU) complex in siblings.

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

7. Genetics and limb deficiencies.

Review 8. Fibular a/hypoplasia: review and documentation of the fibular developmental field.

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

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

3. The newly recognised skeletogenital syndrome.

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