Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Transmission of Proteus syndrome from father to son?

Literature DB >> 1770536

Transmission of Proteus syndrome from father to son?

J Goodship¹, A Redfearn, D Milligan, D Gardner-Medwin, J Burn.

Abstract

We present a male infant with cranial hemi-hypertrophy, a lymphangioma, a lipoma, and epidermal naevi. A diagnosis of Proteus syndrome was made. His father had had a large lymphangioma resected from the right side of the face as a child. We propose that Proteus syndrome has been transmitted from father to son.

Entities: Disease Species

Mesh：

Year: 1991 PMID： 1770536 PMCID： PMC1017115 DOI： 10.1136/jmg.28.11.781

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

8 in total

1. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.

Authors: R Happle
Journal: J Am Acad Dermatol Date: 1987-04 Impact factor: 11.527

2. Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

Authors: G A Wallis; B J Starman; A B Zinn; P H Byers
Journal: Am J Hum Genet Date: 1990-06 Impact factor: 11.025

3. Encephalocraniocutaneous lipomatosis and Proteus syndrome.

Authors: H R Wiedemann; G R Burgio
Journal: Am J Med Genet Date: 1986-10

4. Proteus syndrome: an expanded phenotype.

Authors: R D Clark; D Donnai; J Rogers; J Cooper; M Baraitser
Journal: Am J Med Genet Date: 1987-05

5. Report of a case resembling the Proteus syndrome with a chromosome abnormality.

Authors: B Say; N J Carpenter
Journal: Am J Med Genet Date: 1988-12

6. Klippel-Trénaunay-Weber syndrome.

Authors: P S Harper; W A Horton
Journal: Birth Defects Orig Artic Ser Date: 1971-06

7. The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.

Authors: H R Wiedemann; G R Burgio; P Aldenhoff; J Kunze; H J Kaufmann; E Schirg
Journal: Eur J Pediatr Date: 1983-03 Impact factor: 3.183

8. Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever.

Authors: M M Cohen
Journal: Neurofibromatosis Date: 1988

8 in total

4 in total

Transmission of Proteus syndrome from father to son?

1. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.

2. Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

3. Encephalocraniocutaneous lipomatosis and Proteus syndrome.

4. Proteus syndrome: an expanded phenotype.

5. Report of a case resembling the Proteus syndrome with a chromosome abnormality.

6. Klippel-Trénaunay-Weber syndrome.

7. The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.

8. Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever.

1. Non-operative management of a splenic laceration in a patient with the Proteus syndrome.

2. A review of vascular anomalies: genetics and common syndromes.

3. Lymphangiolipoma of the thoracic spine in a pediatric patient with Proteus syndrome.

4. Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.