scholarly journals Resolving Severe Oligohydramnios as an Early Prenatal Presentation of Renal Coloboma Syndrome - a Report of Two Generations

2021 ◽  
Author(s):  
Andrew Nguyen ◽  
Carla Campagnolo ◽  
Ghislain Hardy ◽  
Maha Saleh
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Ocular Abnormalities ◽  
Variable Expressivity ◽  
Two Generations ◽  
Renal Coloboma Syndrome ◽  
Pax2 Gene

Renal coloboma syndrome (RCS) is an autosomal dominant disorder associated with the PAX2 gene. With variable expressivity, renal and ocular abnormalities are reported in a majority of individuals affected. We highlight a mother and her newborn with RCS, both presenting prenatally, showing self-resolving severe oligohydramnios as an early prenatal finding.

Genetics of split hand and split foot. A case study

1996 ◽  
Vol 86 (6) ◽  
pp. 244-248 ◽  
Author(s):  
BD Caldwell
Keyword(s):  
Genetic Counseling ◽  
Segregation Distortion ◽  
Autosomal Dominant ◽  
Molecular Level ◽  
Chromosome 7 ◽  
Autosomal Dominant Disorder ◽  
Variable Expressivity ◽  
Reduced Penetrance

Split hand and split foot is an autosomal dominant disorder that displays several genetic phenomena. These include variable expressivity, reduced penetrance, and segregation distortion. Although not fully understood at the molecular level, all are important in determining transmission of the gene thought to be mapped to the long arm of chromosome 7 (7q21.3-q22.1). These phenomena, therefore, have significant implications for inheritance of split hand and split foot and for proper referral for genetic counseling.

scholarly journals The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

Genes ◽  
2019 ◽  
Vol 10 (12) ◽  
pp. 1050 ◽  
Author(s):  
Dulce Lima Cunha ◽  
Gavin Arno ◽  
Marta Corton ◽  
Mariya Moosajee
Keyword(s):  
Autosomal Dominant ◽  
Eye Development ◽  
Autosomal Dominant Disorder ◽  
Ocular Abnormalities ◽  
Ocular Development ◽  
Coding Regions ◽  
Optic Cup ◽  
Foveal Hypoplasia ◽  
Dosage Sensitive Gene

The transcription factor PAX6 is essential in ocular development in vertebrates, being considered the master regulator of the eye. During eye development, it is essential for the correct patterning and formation of the multi-layered optic cup and it is involved in the developing lens and corneal epithelium. In adulthood, it is mostly expressed in cornea, iris, and lens. PAX6 is a dosage-sensitive gene and it is highly regulated by several elements located upstream, downstream, and within the gene. There are more than 500 different mutations described to affect PAX6 and its regulatory regions, the majority of which lead to PAX6 haploinsufficiency, causing several ocular and systemic abnormalities. Aniridia is an autosomal dominant disorder that is marked by the complete or partial absence of the iris, foveal hypoplasia, and nystagmus, and is caused by heterozygous PAX6 mutations. Other ocular abnormalities have also been associated with PAX6 changes, and genotype-phenotype correlations are emerging. This review will cover recent advancements in PAX6 regulation, particularly the role of several enhancers that are known to regulate PAX6 during eye development and disease. We will also present an updated overview of the mutation spectrum, where an increasing number of mutations in the non-coding regions have been reported. Novel genotype-phenotype correlations will also be discussed.

Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism

2020 ◽  
Vol 33 (7) ◽  
pp. 963-966
Author(s):  
Haruka Kawamura ◽  
Satoshi Watanabe ◽  
Takashi I ◽  
Izumi Asahina ◽  
Hiroyuki Moriuchi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Therapeutic Potential ◽  
Giant Cells ◽  
Efficacy And Safety ◽  
Autosomal Dominant Disorder ◽  
Osteolytic Lesions ◽  
Case Presentation ◽  
Childhood Growth ◽  
Receptor Activator ◽  
Denosumab Treatment

AbstractBackgroundDenosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand, which strongly suppresses osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the jaws, in which the bone is replaced by a fibrous granuloma containing osteoclast-like giant cells.Case presentationWe report the efficacy and safety of denosumab treatment in a prepubertal boy with progressive cherubism. The treatment consisting of eight subcutaneous denosumab injections (120 mg/dose) in 6 months not only suppressed the expansion of the osteolytic lesions but also dramatically ossified them. However, a transiently decreased growth rate and rebounded asymptomatic hypercalcemia were associated with the treatment.ConclusionsThe present case demonstrated the therapeutic potential of denosumab for treatment of cherubism, although adverse effects, especially those on childhood growth, remain obscure. Further studies are needed to establish a safe and effective protocol for denosumab treatment of children.

scholarly journals Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease

2006 ◽  
Vol 15 (24) ◽  
pp. 3520-3528 ◽  
Author(s):  
Cherie Stayner ◽  
Diana M. Iglesias ◽  
Paul R. Goodyer ◽  
Lana Ellis ◽  
Greg Germino ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Gene Dosage ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Pax2 Gene

PLEXIFORM NEUROFIBROMA OF THE BRACHIAL PLEXUS – A RARE CASE REPORT

2021 ◽  
pp. 13-15
Author(s):  
Surya Rao Rao Venkata Mahipathy ◽  
Alagar Raja Durairaj ◽  
Narayanamurthy Sundaramurthy ◽  
Anand Prasath Jayachandiran ◽  
Suresh Rajendran
Keyword(s):  
Brachial Plexus ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Plexiform Neurofibroma ◽  
Autosomal Dominant Disorder ◽  
Surgical Debulking ◽  
Rare Case Report ◽  
Benign Tumours ◽  
Common Benign Tumour

Neurobroma is a common benign tumour occurring as part of an autosomal dominant disorder, neurobromatosis type 1, leading to the formation of benign tumours or neurobromas of the peripheral nervous system. Large neurobromas of the brachial plexus are rare and present a difcult challenge for surgeon due to the anatomical complexity of the brachial plexus. Dermal neurobromas usually present with swelling and occasional pain, but neurobromas associated with the brachial plexus present with pain and neurological symptoms. These plexiform neurobromas of the brachial plexus are known to undergo malignant transformation. Here, we present a case of a large plexiform neurobroma affecting the left brachial plexus and extending till the elbow, conrmed with MRI and surgical debulking was done.

Progressive Diaphyseal Dysplasia: Genetics and Clinical and Radiologic Manifestations

PEDIATRICS ◽  
1984 ◽  
Vol 74 (3) ◽  
pp. 399-405
Author(s):  
Yehezkel Naveh ◽  
Joseph K. Kaftori ◽  
Uri Alon ◽  
Jacob Ben-David ◽  
Moshe Berant
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Generation Family ◽  
Progressive Diaphyseal Dysplasia ◽  
Radiographic Screening ◽  
Osteosclerotic Dysplasia ◽  
Structural Deformity ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.

scholarly journals Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease

2009 ◽  
Vol 18 (8) ◽  
pp. 1543-1543
Author(s):  
C. Stayner ◽  
D. M. Iglesias ◽  
P. R. Goodyer ◽  
L. Ellis ◽  
G. Germino ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Gene Dosage ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Pax2 Gene

scholarly journals Neurofibromatosis

2014 ◽  
Vol 34 (1) ◽  
pp. 81-82
Author(s):  
D Sharma ◽  
S Murki ◽  
V Madhavi
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Autosomal Dominant ◽  
Nerve Tissue ◽  
Autosomal Dominant Disorder ◽  
Café Au Lait Spots

Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues. Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop(1). We report a baby who was admitted with us in view of prematurity (34 weeks gestation ) and low birth weight (1.32 Kg). Baby’s  mother was antenatally diagnosed with NF 1(figure no 1,2). Baby had multiple café au lait spots all over the bodies (figure no 3,4). Baby was discharged from nursery in well condition.DOI: http://dx.doi.org/10.3126/jnps.v34i1.8535 J Nepal Paediatr Soc 2014;34(1):81-82 

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

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