scholarly journals Popliteal pterygium syndrome: case report from rural India

2020 ◽  
Vol 7 (7) ◽  
pp. 1627
Author(s):  
Vasav D. Desai ◽  
Gayatri S. Desai ◽  
Nirav Raulji
Keyword(s):  
Autosomal Dominant ◽  
Rare Condition ◽  
Ischial Tuberosity ◽  
Incomplete Penetrance ◽  
Autosomal Dominant Disorder ◽  
Congenital Talipes Equinovarus ◽  
Talipes Equinovarus ◽  
Popliteal Pterygium Syndrome ◽  
Genitourinary Anomalies ◽  
Popliteal Pterygium

The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is also known as faciogenitopopliteal syndrome. It is autosomal dominant disorder. It has highly variable expressivity and incomplete penetrance. The incidence of the popliteal pterygium syndrome is 1/300000, which makes it an extremely rare condition. The most striking characteristic of this syndrome is popliteal pterygium, which consists of a net of connective tissue spreading from the ischial tuberosity to the calcaneus.In this study, authors present the case of a 1 day old male patient with cleft upper lip, cleft palate, bifid scrotum, popliteal pterygium and congenital talipes equinovarus (CTEV). 

POPLITEAL PTERYGIUM SYNDROME

PEDIATRICS ◽  
1968 ◽  
Vol 41 (2) ◽  
pp. 503-509
Author(s):  
Robert J. Gorlin ◽  
Heddie O. Sedano ◽  
J. Cervenka
Keyword(s):  
Cleft Lip ◽  
Autosomal Dominant ◽  
Free Edge ◽  
Autosomal Dominant Trait ◽  
Popliteal Pterygium Syndrome ◽  
Cleft Lip Palate ◽  
Affected Parent ◽  
Genitourinary Anomalies ◽  
Popliteal Pterygium ◽  
Oral Anomalies

The name of popliteal pterygium syndrome is suggested for a well defined complex that consists of popliteal pterygium (usually bilateral), intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, valgus or varus deformities of the feet and syndactyly, genitourinary anomalies (such as cryptorchidism, absent or cleft scrotum, inguinal hernia, hypoplasia or aplasia of the labia majora, and oral anomalies (such as cleft lip-palate, syngnathia and lower labial pits). There may also be filiform adhesion of the eyelids. This syndrome is but one of perhaps 20 or more that involve clefting of the lip and/or palate. It is inherited as an autosomal dominant trait with variable expressivity. Rarely is it transmitted from affected parent to offspring due to genital hypoplasia. The authors point out the importance of the awareness of the surgeon who corrects the popliteal pterygium since the sciatic nerve runs beneath the fibrous septum that forms the free edge of the pterygium.

scholarly journals Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1819
Author(s):  
Kuntharee Traisrisilp ◽  
Suchaya Luewan ◽  
Sirinart Sirilert ◽  
Phudit Jatavan ◽  
Theera Tongsong
Keyword(s):  
Cleft Lip ◽  
De Novo ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Ambiguous Genitalia ◽  
Knee Extension ◽  
Lower Limbs ◽  
Autosomal Dominant Disorder ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

Popliteal pterygium syndrome (PPS) is an extremely rare autosomal dominant disorder, characterized by the cleft palate with or without cleft lip, limbs abnormalities with highly characteristic features of popliteal webbing, syndactyly, and genital abnormalities and nail anomalies. Prenatal diagnosis of PPS has been extremely rare. We describe a unique case of fetal PPS at 20 weeks of gestation. The diagnosis of PPS was based on the ultrasound findings of bilateral popliteal webbings, extending from posterior aspects of the upper thighs through the lower legs, resulting in restriction in knee extension, bilateral equinovarus feet with syndactyly, ambiguous genitalia and the grooved lip. Anatomical structures were otherwise normal. Trio whole-exome sequencing revealed a de novo heterozygous IRF6 gene mutation in the fetus, confirming the diagnosis with PPS. In conclusion, popliteal webbing or combination of facial cleft or cleft variants and bilateral abnormal postures of the lower limbs is suggestive of PPS and genetic diagnosis should be warranted.

scholarly journals A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes

2021 ◽  
Vol 12 (4) ◽  
Author(s):  
Joanne M. Hildebrand ◽  
Bernice Lo ◽  
Sara Tomei ◽  
Valentina Mattei ◽  
Samuel N. Young ◽  
...  
Keyword(s):  
Potential Role ◽  
Autosomal Dominant ◽  
Inflammatory Diseases ◽  
Diabetic Patients ◽  
Incomplete Penetrance ◽  
Loss Of Function ◽  
Healthy Sibling ◽  
Dominant Disease ◽  
Terminal Effector

AbstractMaturity-onset diabetes of the young, MODY, is an autosomal dominant disease with incomplete penetrance. In a family with multiple generations of diabetes and several early onset diabetic siblings, we found the previously reported P33T PDX1 damaging mutation. Interestingly, this substitution was also present in a healthy sibling. In contrast, a second very rare heterozygous damaging mutation in the necroptosis terminal effector, MLKL, was found exclusively in the diabetic family members. Aberrant cell death by necroptosis is a cause of inflammatory diseases and has been widely implicated in human pathologies, but has not yet been attributed functions in diabetes. Here, we report that the MLKL substitution observed in diabetic patients, G316D, results in diminished phosphorylation by its upstream activator, the RIPK3 kinase, and no capacity to reconstitute necroptosis in two distinct MLKL−/− human cell lines. This MLKL mutation may act as a modifier to the P33T PDX1 mutation, and points to a potential role of impairment of necroptosis in diabetes. Our findings highlight the importance of family studies in unraveling MODY’s incomplete penetrance, and provide further support for the involvement of dysregulated necroptosis in human disease.

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 Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred

Endocrine ◽  
2021 ◽  
Author(s):  
Carlotta Marzocchi ◽  
Silvia Cantara ◽  
Alfonso Sagnella ◽  
Maria Grazia Castagna ◽  
Marco Capezzone
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Three Dimensional ◽  
Rare Condition ◽  
Central Diabetes Insipidus ◽  
Disulfide Bridges ◽  
Italian Family ◽  
Avp Gene

Abstract Purpose Familial neurohypophysial diabetes insipidus (FNDI), commonly caused by autosomal dominant arginine vasopressin (AVP) mutations, is a rare condition in which vasopressin fails in regulating body’s level of water with final polyuria and polydipsia. Genetic testing in familial cases of FNDI should be carry out to ensure adequate treatments and avoid disease manifestations especially in infants. Methods In this study, we investigated three-generations of a large Italian family with clinical diagnosis of familial central diabetes insipidus for the presence of potential pathogenic mutations in the AVP gene. Results We identified a heterozygous missense mutation (c.154 T > A; p.C52S) in AVP gene in all affected members studied of a large Italian family. In silico tools were used to investigate the pathogenic role of the mutation and three-dimensional protein structure predicted that the p.C52S impairs disulfide bridges formation resulting in misfolding of the protein. Conclusions This is the first study that identified a novel missense p.C52S mutation as causative of central diabetes insipidus in a large Italian pedigree.

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