scholarly journals Variable phenotypic expression of Apert syndrome in monozygotic twins

2018 ◽  
Vol 7 (1) ◽  
pp. 54-57 ◽  
Author(s):  
Matthieu Dap ◽  
Pascale Bach-Segura ◽  
Charline Bertholdt ◽  
Didier Menzies ◽  
Jean-Pierre Masutti ◽  
...  
Keyword(s):  
Phenotypic Expression ◽  
Monozygotic Twins ◽  
Apert Syndrome

Monozygotic Twins with Apert Syndrome

2008 ◽  
Vol 45 (1) ◽  
pp. 101-104 ◽  
Author(s):  
Corstiaan C. Breugem ◽  
Donald F. Fitzpatrick ◽  
Cynthia Verchere
Keyword(s):  
English Literature ◽  
Point Mutations ◽  
Monozygotic Twins ◽  
Growth Factor Receptor ◽  
Clinical Findings ◽  
Apert Syndrome ◽  
Normal Children ◽  
Metopic Synostosis ◽  
Metopic Suture ◽  
New Mutations

Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2. Most patients with Apert syndrome have this as an autosomal dominant abnormality. The majority of cases are sporadic, resulting from new mutations. Although there have been some descriptions of familial Apert syndrome, we could find only one previous description in the English literature about twinning in Apert syndrome. This report demonstrates monozygotic twins affected by Apert syndrome with both boys having the Ser252Trp mutation. Although the general constellation of clinical findings was characteristic for Apert syndrome, this case report is unique since the twins had different craniofacial and hand features. One of our twins had a metopic synostosis while Apert syndrome is often characterized by the large metopic suture that closes much later when compared to normal children.

scholarly journals Different phenotypic expression in monozygotic twins with Huntington disease

2003 ◽  
Vol 124A (1) ◽  
pp. 89-91 ◽  
Author(s):  
M.H. Anca ◽  
E. Gazit ◽  
R. Loewenthal ◽  
O. Ostrovsky ◽  
M. Frydman ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Phenotypic Expression ◽  
Monozygotic Twins

Different phenotypic expression of fabry disease in female monozygotic twins

1991 ◽  
Vol 14 (1) ◽  
pp. 105-106 ◽  
Author(s):  
T. Levade ◽  
F. Giordano ◽  
A. Maret ◽  
M.-C. Marguery ◽  
J. Bazex ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Phenotypic Expression ◽  
Monozygotic Twins

Discordant phenotypic expression of Alport syndrome in monozygotic twins

2004 ◽  
Vol 62 (10) ◽  
pp. 313-318 ◽  
Author(s):  
H. Matsukura ◽  
A. Higuchi ◽  
A. Ieki ◽  
T. Miyawaki
Keyword(s):  
Alport Syndrome ◽  
Phenotypic Expression ◽  
Monozygotic Twins

Relationship of birth weight to the phenotypic expression of Gilles de la Tourette's syndrome in monozygotic twins

Neurology ◽  
1992 ◽  
Vol 42 (3) ◽  
pp. 652-652 ◽  
Author(s):  
T. M. Hyde ◽  
B. A. Aaronson ◽  
C. Randolph ◽  
K. C. Rickler ◽  
D. R. Weinberger
Keyword(s):  
Birth Weight ◽  
Phenotypic Expression ◽  
Monozygotic Twins ◽  
Tourette's Syndrome ◽  
Tourette’S Syndrome ◽  
Relationship Of

Phenotypic expression of the myotonic dystrophy gene in monozygotic twins

Neurology ◽  
1992 ◽  
Vol 42 (9) ◽  
pp. 1815-1815 ◽  
Author(s):  
J. R. Dubel ◽  
R. M. Armstrong ◽  
M. B. Perryman ◽  
H. F. Epstein ◽  
T. Ashizawa
Keyword(s):  
Myotonic Dystrophy ◽  
Phenotypic Expression ◽  
Monozygotic Twins
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