Meckel syndrome

2013 ◽  
pp. 76-89
Author(s):  
Amanda Leightner ◽  
Peter C Harris
Keyword(s):  
Meckel Syndrome

Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome)

2008 ◽  
Vol 15 (3) ◽  
pp. 278-286 ◽  
Author(s):  
U. Friedrich ◽  
K. Brogård Hansen ◽  
M. Hauge ◽  
I. Hägerstrand ◽  
K. Kristoffersen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Polycystic Kidneys ◽  
Meckel Syndrome

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4

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

scholarly journals Amniotic band syndrome: etiology, clinical features, diagnosis

2005 ◽  
Vol 54 (2) ◽  
pp. 79-82
Author(s):  
V. G. Vakharlovsky ◽  
А. A. Koryukov ◽  
N. V. Belyak ◽  
А. А. Shikhmagomedov
Keyword(s):  
Birth Defects ◽  
Ultrasound Examination ◽  
Fetal Surgery ◽  
Clinical Heterogeneity ◽  
Congenital Diseases ◽  
Amniotic Band ◽  
Meckel Syndrome ◽  
Amniotic Band Syndrome ◽  
Edwards Syndrome ◽  
Limb Deformities

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 %.

scholarly journals The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity

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

scholarly journals Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

2019 ◽  
Vol 24 (2) ◽  
pp. 1906-1916 ◽  
Author(s):  
Rui Zhang ◽  
Shaoyun Chen ◽  
Peng Han ◽  
Fangfang Chen ◽  
Shan Kuang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Meckel Syndrome ◽  
Whole Exome ◽  
Novel Variant

scholarly journals Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype

2019 ◽  
Vol 09 (02) ◽  
pp. 101-103 ◽  
Author(s):  
Yeliz Cagan Appak ◽  
Masallah Baran ◽  
Burcu Ozturk Hismi ◽  
Berk Ozyilmaz ◽  
Kader Vardi ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Case Report ◽  
Genetic Disorder ◽  
Supportive Treatment ◽  
Disease Phenotype ◽  
Meckel Syndrome ◽  
Related Disease ◽  
Pathogenic Variants ◽  
Ciliary Protein ◽  
Elevated Transaminases

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.

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

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

Prenatal diagnosis of Meckel syndrome: Case reports and literature review

1984 ◽  
Vol 18 (4) ◽  
pp. 699-711 ◽  
Author(s):  
Virginia P. Johnson ◽  
David R. Holzwarth ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Case Reports ◽  
Meckel Syndrome

SKELETAL ABNORMALITIES IN MECKEL SYNDROME

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