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 Popliteal Pterygium Syndrome (Facio-Genito-Popliteal Syndrome)

2016 ◽  
Vol 2 (1) ◽  
pp. 33-43
Author(s):  
N. Mariappan ◽  
Keyword(s):  
Genetic Counseling ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Dental Treatment ◽  
Molecular Genetic ◽  
Optimal Time ◽  
Lower Lip ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

Background: IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Popliteal pterygia are found in popliteal pterygium syndrome, multiple pterygium syndrome and Arthrogryposis. The popliteal pterygium syndrome is a rare congenital condition, in which the patient has facial, genitourinary and skeletal anomalies along with popliteal pterygium. Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformation disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. AD-PPS is associated with mutations in the IRF6 gene (1q32.2-q32.3), involved in the formation of connective and epithelial tissues. Almost all affected patients harbor mutations in this gene. The word ‘pterygium’ is derived from the Greek word pterygion, which means wing. Pathologically it denotes a wing-like abnormal band of tissue. The most obvious characteristics of this syndrome are popliteal pterygium and a triangular crease of skin over the hallux. The orofacial findings include cleft lip, cleft palate, lower lip pits, a few missing teeth, and severely decayed teeth. The dental problems are overshadowed by the major syndromic manifestations. These patients have special dental needs and early preventive dental care and appropriate dental treatment at the optimal time is important. Diagnosis of pterygium syndrome is based on the clinical findings and confirmed by molecular genetic testing. AD-PPS is highly associated with missense mutations that alter residues that are predicted to interact directly with DNA in exons 3 and 4 of IRF6. Conclusion: An understanding of the molecular genetic basis of this syndrome is essential for prenatal diagnosis and also for genetic counseling of the parents. Keywords: Popliteal pterygium syndrome, Escobar syndrome, Magnetic resonance imaging, Congenital contractures, Genetic counseling.

scholarly journals Prenatal Sonographic Features of CHARGE Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 415
Author(s):  
Kuntharee Traisrisilp ◽  
Wisit Chankhunaphas ◽  
Rekwan Sittiwangkul ◽  
Chureerat Phokaew ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
De Novo ◽  
Heart Defects ◽  
Molecular Genetic ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Acoustic Stimulation ◽  
Genetic Mutation ◽  
Suspected Case ◽  
Autosomal Dominant Disorder ◽  
Canal Stenosis

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.

Clinical approach

2017 ◽  
Author(s):  
Helen V. Firth ◽  
Jane A. Hurst
Keyword(s):  
Support Groups ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Anterior Segment ◽  
Genetic Diagnosis ◽  
Ambiguous Genitalia ◽  
Clinical Approach ◽  
Floppy Infant ◽  
Developmental Regression ◽  
Scalp Defects

This chapter introduces a list of clinical presentations seen in a genetics clinic or on the ward such as ambiguous genitalia including sex reversal, anterior segment eye malformations, ataxic adult, broad thumbs, cataract, cerebral palsy, cleft lip and palate, coloboma, congenital heart disease, developmental regression, dysmorphic child, dystonia, ear anomalies, floppy infant, fractures, holoprosencephaly, hydrocephalus, hypermobile joints, large fontanelle, limb reduction defect, lumps and bumps, microcephaly, nasal anomalies, nystagmus, overgrowth, post-axial polydactyly, retinal dysplasia, scalp defects, and more. The chapter outlines a practical clinical approach with relevant investigations to help to achieve an accurate genetic diagnosis, together with genetic advice, and a list of support groups.

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.

Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker–Warburg Syndrome

2017 ◽  
Vol 21 (3) ◽  
pp. 319-323 ◽  
Author(s):  
Zöe Powis ◽  
Adam C Chamberlin ◽  
Christina L Alamillo ◽  
Sophia Ceulemans ◽  
Lynne M Bird ◽  
...  
Keyword(s):  
Creatine Kinase ◽  
Exome Sequencing ◽  
De Novo ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Congenital Muscular Dystrophy ◽  
Testing Methods ◽  
Genetic Etiology ◽  
Molecular Genetic Diagnosis ◽  
Abnormal Brain

Objective Herein, we report a case of a deceased newborn with prenatally detected hydrocephalus. Postnatal findings included abnormal brain imaging and electroencephalogram, optic nerve abnormalities, and elevated creatine kinase (CK). No underlying genetic etiology had been previously identified for the proband, despite testing with a congenital muscular dystrophy gene panel. Methods Diagnostic exome sequencing (DES) was performed on the proband-parents trio, and candidate alterations were confirmed using automated fluorescence dideoxy sequencing. Results Exome sequencing of the proband, mother and father identified a previously unreported apparently de novo heterozygous tubulin, beta-3 ( TUBB3) c.523G>C (p.V175L) alteration in the proband. Conclusion Overall, DES established a likely molecular genetic diagnosis for a postmortem case after traditional testing methods were uninformative. The DES results allowed for reproductive options, such as preimplantation genetic diagnosis and/or prenatal diagnosis, to be available to the parents in future pregnancies.

scholarly journals First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly

2021 ◽  
pp. 1-5
Author(s):  
Ayberk Turkyilmaz ◽  
Erdal Kurnaz ◽  
Atilla Cayir
Keyword(s):  
Intellectual Disability ◽  
Array Cgh ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Autism Spectrum ◽  
Comparative Genomic ◽  
Facial Dysmorphism ◽  
Genetic And Environmental Factors

Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and understanding cause-effect relationships. Some cases have ID as the only finding and are called isolated cases. Conversely, cases accompanied by facial dysmorphism, microcephaly, autism spectrum disorder, epilepsy, obesity, and congenital anomalies are called syndromic developmental delay (DD)/ID. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Genetic etiology can be detected in approximately 40% of the cases, whereas chromosomal abnormalities are observed in 25%. Obesity is a multifactorial disease in which both genetic and environmental factors play important roles. The role of heredity in obesity has been reported to be between 40 and 70%. Array-based comparative genomic hybridization (array-CGH) can detect CNVs in the whole genome at a higher resolution than conventional cytogenetic methods. Array-CGH is currently recommended as the first-tier genetic test for ID cases worldwide. In the present study, we aimed to evaluate clinical, radiological, and genetic analyses of a 12-year and 4-month-old girl with microcephaly, ID, and obesity. In the array-CGH analysis, a 3.1-Mb deletion, arr[GRGh37] 10q23.31g23.33 (92745793_95937944)×1 was detected, and this alteration was evaluated to be pathogenic. We consider that haploinsufficiency of the candidate genes (<i>GPR120</i>, <i>KIF11</i>, <i>EXOC6</i>, <i>CYP26A1</i>, <i>CYP26C1</i>, and <i>LGI1</i>) in the deletion region may explain microcephaly, ID, obesity, seizures, and ophthalmological findings in our patient. The investigation of 10q23.31q23.33 microdeletion in cases with syndromic obesity may contribute to molecular genetic diagnosis.

Prenatal diagnosis of Apert syndrome

2018 ◽  
Author(s):  
N.P. Veropotvelyan , D.I. Laylo , T.V. Usenko
Keyword(s):  
Prenatal Diagnosis ◽  
Autosomal Dominant ◽  
De Novo ◽  
The Other ◽  
Lower Limbs ◽  
Apert Syndrome ◽  
Type I ◽  
Autosomal Dominant Disorder ◽  
Nasal Bridge ◽  
Skull Shape

Apert syndrome is a rare monogenic autosomal dominant disorder characterized by severe craniosynostosis, hypoplastic mediofacial structures and symmetric syndactyly of the upper and lower limbs. De novo case with Apert synclrome fetus was detected prenatally at 19–20 weeks of gestation when echography showed next pathognomic signs: an abnormal skull shape, frontal bossing, mild pachygyria, severe hypertelorism bilateral exophthalmos, deep nasal bridge, short upturned nose, prognathia, long filtrum, mild microgenia and ful syndactyly of the feet and hands. Differential diagnosis with other acrocephalosyndactyly types was performed. It is considered, that this is the earliest term of this syndrom prenatal diagnosis in a low risk pregnancies with unimpaired family history. By the parents desire this pregnancy was terminated and subsequent autopsy confirmed the diagnosis of Apert syndrome (acrocephalosyndactyly — type I) one of the hands looks like mitten the other one has the bucket shape.

Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis

2013 ◽  
Vol 154 (23) ◽  
pp. 914-918 ◽  
Author(s):  
Erzsébet Kövesdi ◽  
Kinga Hadzsiev ◽  
Katalin Komlósi ◽  
Mária Kassay ◽  
Péter Barsi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
De Novo ◽  
Phenotypic Variability ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Renal Cysts ◽  
Molecular Genetic Analysis ◽  
Autosomal Dominant Disorder ◽  
Modifying Factors ◽  
Tsc1 Gene

Tuberous sclerosis is an autosomal dominant disorder, caused by mutations of the TSC1 or TSC2 genes resulting in tumor predisposition. Clinical signs include non-malignant brain tumors, skin, eye, heart and kidney abnormalities. The authors report a Hungarian family with broad phenotypic variability. First, the 5-year-old boy, showing the most symptoms was examined, whose first seizure occurred at 15 months and a cranial magnetic resonance imaging revealed numerous intracerebral calcareous foci. Except of hypopigmented skin spots, no other abnormality was found on physical examination. The mother was completely asymptomatic. Epilepsy of the maternal uncle started at the age of 3 years, of his sister at the age of 17 years and of the maternal grandmother at the age of 39 years. At the age of 52 years the grandmother developed renal cysts. Molecular genetic analysis of the family confirmed a de novo heterozygous point mutation (c.2523 C\>T) in exon 20 of the TSC1 gene. The mutation was detected in all examined family members. Despite increasing data on the pathomechanism of tuberous sclerosis, there is still little known about the genetic modifying factors influencing the broad intra- and interfamilial phenotypic variability. Orv. Hetil., 2013, 154, 914–918.

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). 

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