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Year Number of Results
1982 1
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1999 1
2000 1
2002 1
2004 1
2005 2
2006 1
2010 1
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2018 2
2019 2
2021 1
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2024 2

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Page 1
Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?
Leyne E, Anselem O, Jordan P, Vivanti AJ, Benachi A, Salomon L, Jacquier M, Jouannic JM, Dhombres F, Cambier T, Rosenblatt J, Pannier E, Goffinet F, Tsatsaris V, Athiel Y. Leyne E, et al. Acta Obstet Gynecol Scand. 2024 Jan;103(1):51-58. doi: 10.1111/aogs.14716. Epub 2023 Nov 9. Acta Obstet Gynecol Scand. 2024. PMID: 37942915 Free PMC article.
INTRODUCTION: The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus. MATERIAL AND METHODS: This multicenter observational retrospective study includes a …
INTRODUCTION: The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isol …
Möbius syndrome with cardiac rhabdomyomas.
Verner A, Agarwal-Sinha S, Han FY. Verner A, et al. Ophthalmic Genet. 2018 Jun;39(3):373-376. doi: 10.1080/13816810.2017.1423336. Epub 2018 Jan 16. Ophthalmic Genet. 2018. PMID: 29336632
He was noted to have micrognathia, retrognathia, wide nasal bridge, low set ears, high arched palate, nonreducing bilateral talipes equinovarus and bilateral large angle esotropia with -4 abduction deficit and facial palsy, findings suggestive of Mobius Syndr …
He was noted to have micrognathia, retrognathia, wide nasal bridge, low set ears, high arched palate, nonreducing bilateral talipe …
Proteus syndrome.
Ng SC, Khoo BS, Ho NK. Ng SC, et al. J Paediatr Child Health. 1997 Jun;33(3):264-6. doi: 10.1111/j.1440-1754.1997.tb01595.x. J Paediatr Child Health. 1997. PMID: 9259308
There was a smaller lymphangioma over the left side of her neck with excess nuchal folds, macrodactyly and bilateral talipes equinovarus. Despite the extensive hemifacial swelling, there was no evidence of upper respiratory tract obstruction. ...
There was a smaller lymphangioma over the left side of her neck with excess nuchal folds, macrodactyly and bilateral talipes …
Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.
Pecimonova M, Radvanszky J, Smolak D, Budis J, Lichvar M, Kristinova D, Rozova I, Turna J, Szemes T. Pecimonova M, et al. Medicine (Baltimore). 2021 Jun 4;100(22):e26136. doi: 10.1097/MD.0000000000026136. Medicine (Baltimore). 2021. PMID: 34087865 Free PMC article.
The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sclerae, hydronephrosis, transversal palmar crease (found also in their father), and bilateral talipes equinovarus. In ad …
The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sc …
A case of acampomelic campomelic dysplasia.
Ozkilic A, Seven M, Yuksel A. Ozkilic A, et al. Genet Couns. 2002;13(1):23-8. Genet Couns. 2002. PMID: 12017234
A 15 day old Turkish boy presented with a small flat face, dolicocephalic head, proptotic eyes, short neck, low-set ears and a small thoracic cage. Limbs were mesomelically short and bilateral talipes equinovarus was present. The radiological findings indicat …
A 15 day old Turkish boy presented with a small flat face, dolicocephalic head, proptotic eyes, short neck, low-set ears and a small thoraci …
Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.
Zhang F, Guo H, Zhou X, Deng Z, Xu Q, Wang Q, Yuan H, Luo J. Zhang F, et al. BMC Pediatr. 2024 Mar 15;24(1):182. doi: 10.1186/s12887-024-04674-6. BMC Pediatr. 2024. PMID: 38491417 Free PMC article.
We described the features of multiple joint contractures in our fetuses, including bilateral talipes equinovarus, stiffness in the limbs, extended knees, persistently closed hands and overlapping fingers, which have not been delineated detailedly in previousl …
We described the features of multiple joint contractures in our fetuses, including bilateral talipes equinovarus, stiff …
Prenatal diagnosis of campomelic dysplasia.
Tongsong T, Wanapirak C, Pongsatha S. Tongsong T, et al. Ultrasound Obstet Gynecol. 2000 May;15(5):428-30. doi: 10.1046/j.1469-0705.2000.00126.x. Ultrasound Obstet Gynecol. 2000. PMID: 10976487 Free article.
Both femurs and tibiae were obviously bowed anteriorly, and slightly shortened. Bilateral talipes equinovarus were clearly demonstrated. A prenatal diagnosis of campomelic dysplasia was made and was confirmed by postnatal radiography and autopsy. ...
Both femurs and tibiae were obviously bowed anteriorly, and slightly shortened. Bilateral talipes equinovarus were clea …
Septo-optic dysplasia with amniotic band syndrome sequence: a case report.
Amiji IA, Mohamed UH, Rutashobya AG, Mngoya M, Schoenmann N, Naburi HE, Manji KP. Amiji IA, et al. J Med Case Rep. 2019 Dec 16;13(1):370. doi: 10.1186/s13256-019-2306-2. J Med Case Rep. 2019. PMID: 31839004 Free PMC article.
Other dysmorphic features were low-set ears, microcephaly, and bilateral talipes equinovarus. He otherwise had a normal neurological examination result. ...
Other dysmorphic features were low-set ears, microcephaly, and bilateral talipes equinovarus. He otherwise had a normal …
Case report of a child bearing a novel deleterious splicing variant in PIGT.
Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg D, Kirk EP, Urreizti R. Mason S, et al. Medicine (Baltimore). 2019 Feb;98(8):e14524. doi: 10.1097/MD.0000000000014524. Medicine (Baltimore). 2019. PMID: 30813157 Free PMC article.
PATIENT CONCERNS: An 18-month-old boy of Greek ancestry presented with global developmental delay, generalized tonic-clonic seizures, hypotonia, renal cysts, esotropia, bilateral undescended testes, bilateral vesicoureteric reflux, marked cardiac dextroposition, bilateral …
PATIENT CONCERNS: An 18-month-old boy of Greek ancestry presented with global developmental delay, generalized tonic-clonic seizures, hypoto …
20 results