Meckel syndrome

Author(s):  
Amanda Leightner ◽  
Peter C Harris
Keyword(s):  
2008 ◽  
Vol 15 (3) ◽  
pp. 278-286 ◽  
Author(s):  
U. Friedrich ◽  
K. Brogård Hansen ◽  
M. Hauge ◽  
I. Hägerstrand ◽  
K. Kristoffersen ◽  
...  

2013 ◽  
Vol 56 (10) ◽  
pp. 580-583 ◽  
Author(s):  
Arnaud Molin ◽  
Guillaume Benoist ◽  
Corinne Jeanne-Pasquier ◽  
Nadia Elkartoufi ◽  
Julie Litzer ◽  
...  
Keyword(s):  

2005 ◽  
Vol 54 (2) ◽  
pp. 79-82
Author(s):  
V. G. Vakharlovsky ◽  
А. A. Koryukov ◽  
N. V. Belyak ◽  
А. А. Shikhmagomedov

The article presents the problem of birth defects caused by amniotic bands (AB) amniotic band syndrome (ABS). This syndrome is of multifactorial origin, the incidence of diagnosis is 7,7:10 000 newborns. ABS is characterized by clinical heterogeneity: limb deformities (occur most frequently), head and brain abnormalities, rare cases of body disorders, omphalocele, etc. Fetal surgery through laser release of AB is described. In some cases ABS should be differentiated from Meckel syndrome, Edwards syndrome and other congenital diseases as well as neural tube defects. In case of ABS diagnosis in fetus as a result of ultrasound examination of a pregnant woman consultation of physicians (obstetriciangynaecologist, medical geneticist, specialist in ultrasound prenatal diagnostics, neonatologist surgeon) including pediatric orthopedist is needed to determine proper tactics of pregnancy management. Recurrence risks for future offspring of a woman whose child (or fetus in history) has had ABS as well as for the persons with ABS do not exceed 2 %.


2013 ◽  
Vol 22 (10) ◽  
pp. 2024-2040 ◽  
Author(s):  
Amanda C. Leightner ◽  
Cynthia J. Hommerding ◽  
Ying Peng ◽  
Jeffrey L. Salisbury ◽  
Vladimir G. Gainullin ◽  
...  

2019 ◽  
Vol 24 (2) ◽  
pp. 1906-1916 ◽  
Author(s):  
Rui Zhang ◽  
Shaoyun Chen ◽  
Peng Han ◽  
Fangfang Chen ◽  
Shan Kuang ◽  
...  

2019 ◽  
Vol 09 (02) ◽  
pp. 101-103 ◽  
Author(s):  
Yeliz Cagan Appak ◽  
Masallah Baran ◽  
Burcu Ozturk Hismi ◽  
Berk Ozyilmaz ◽  
Kader Vardi ◽  
...  

AbstractRenal–hepatic–pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3, which encode nephrocytin, an important component of the ciliary protein complex. The NPHP3-related disease phenotype is diverse with RHPD1, nephronophthisis-3, and Meckel syndrome-7. In this case report, we present a female infant with hepatomegaly, cholestasis, and elevated transaminases who was found to carry a homozygous c.2975C > T variant of NPHP3. This is the first description of this genotype and RHPD1 phenotype in the literature. The patient is currently being closely monitored for the necessity of combined renal and liver transplantation under supportive treatment.


2007 ◽  
Vol 39 (7) ◽  
pp. 875-881 ◽  
Author(s):  
Marion Delous ◽  
Lekbir Baala ◽  
Rémi Salomon ◽  
Christine Laclef ◽  
Jeanette Vierkotten ◽  
...  

1984 ◽  
Vol 18 (4) ◽  
pp. 699-711 ◽  
Author(s):  
Virginia P. Johnson ◽  
David R. Holzwarth ◽  
John M. Opitz ◽  
James F. Reynolds

1997 ◽  
Vol 17 (4) ◽  
pp. 625-630 ◽  
Author(s):  
Jonathan Shanks ◽  
Bronwyn Kerr ◽  
Sarah A. Russell ◽  
Helen Kingston ◽  
Lynette Moore

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