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1987 1
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42 results

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Quoted phrase not found in phrase index: "Omphalocele, autosomal"
Page 1
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Valayannopoulos V, et al. Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. Orphanet J Rare Dis. 2010. PMID: 20385007 Free PMC article. Review.
Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is …
Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing …
Fraser Syndrome.
Saleem AA, Siddiqui SN. Saleem AA, et al. J Coll Physicians Surg Pak. 2015 Oct;25 Suppl 2:S124-6. doi: 10.2015/JCPSP.S124S126. J Coll Physicians Surg Pak. 2015. PMID: 26522198
Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations o …
Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryp …
Syndromes, disorders and maternal risk factors associated with neural tube defects (VII).
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2. Taiwan J Obstet Gynecol. 2008. PMID: 18935989 Free article. Review.
This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonc …
This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocom …
Congenital hypothyroidism clinical aspects and late consequences.
Büyükgebiz A. Büyükgebiz A. Pediatr Endocrinol Rev. 2003 Dec;1 Suppl 2:185-90; discussion 190. Pediatr Endocrinol Rev. 2003. PMID: 16444157 Review.
Inborn errors of thyroid hormonogenesis are responsible for 10-15% of CH cases and usually have autosomal recessive inheritance, consistent with a single gene mutation. ...CH neonates are usually symptom-free and the most encountered symptoms are prolonged jaundice, large …
Inborn errors of thyroid hormonogenesis are responsible for 10-15% of CH cases and usually have autosomal recessive inheritance, cons …
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.
Duque-Cordoba PA, Diaz-Ordoñez L, Gutierrez-Medina JD, Pachajoa H. Duque-Cordoba PA, et al. Medicine (Baltimore). 2023 Nov 24;102(47):e35600. doi: 10.1097/MD.0000000000035600. Medicine (Baltimore). 2023. PMID: 38013309 Free PMC article.
INTRODUCTION: Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogeneity with more than 40 causative genes. ...INTERVENTIONS: Resection was performed to correct the polydactyly. At age 2 years umbilical …
INTRODUCTION: Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogen …
Isolated fetal omphalocele, Beckwith-Wiedemann syndrome, and assisted reproductive technologies.
Wilkins-Haug L, Porter A, Hawley P, Benson CB. Wilkins-Haug L, et al. Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):58-62. doi: 10.1002/bdra.20547. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19107956
MATERIALS AND METHODS: An ultrasound and consultation database (1988-2007) was searched and cases were included that met the following criteria: omphalocele, no additional major structural anomaly or autosomal aneuploidy, and either newborn examination or molecular …
MATERIALS AND METHODS: An ultrasound and consultation database (1988-2007) was searched and cases were included that met the following crite …
Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
Elaraby NM, Ahmed HA, Ashaat NA, Tawfik S, Ahmed MKH, Hassib NF, Ashaat EA. Elaraby NM, et al. J Mol Neurosci. 2022 Nov;72(11):2242-2251. doi: 10.1007/s12031-022-02074-y. Epub 2022 Oct 17. J Mol Neurosci. 2022. PMID: 36251212 Free PMC article. Review.
Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on chromosome 21. ...Our patient was presented with typical clinical manifestations of the disease in addition to new phenotypic f …
Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gen …
2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.
Giraldo-Ocampo S, Pachajoa H. Giraldo-Ocampo S, et al. BMC Pediatr. 2022 Oct 4;22(1):569. doi: 10.1186/s12887-022-03620-8. BMC Pediatr. 2022. PMID: 36192675 Free PMC article.
CASE PRESENTATION: We describe a Colombian 3-year-old patient with verbal communication delay, umbilical hernia, facial dysmorphic features, hypotonia, and macrocephaly with normal magnetic resonance imaging. ...Therapeutic interventions so far were the surgical cor …
CASE PRESENTATION: We describe a Colombian 3-year-old patient with verbal communication delay, umbilical hernia, facial dysmor …
Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.
Tebani A, Zanoutene-Cheriet L, Adjtoutah Z, Abily-Donval L, Brasse-Lagnel C, Laquerrière A, Marret S, Chalabi Benabdellah A, Bekri S. Tebani A, et al. Int J Mol Sci. 2016 May 17;17(5):743. doi: 10.3390/ijms17050743. Int J Mol Sci. 2016. PMID: 27196898 Free PMC article.
Mucopolysaccharidoses (MPS's) represent a subgroup of lysosomal storage diseases related to a deficiency of enzymes that catalyze glycosaminoglycans degradation. Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by a deficiency of alpha-l-i …
Mucopolysaccharidoses (MPS's) represent a subgroup of lysosomal storage diseases related to a deficiency of enzymes that catalyze glycosamin …
Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing.
Zhang K, Cox E, Strom S, Xu ZL, Disilvestro A, Usrey K. Zhang K, et al. Am J Med Genet A. 2020 Sep;182(9):2124-2128. doi: 10.1002/ajmg.a.61725. Epub 2020 Jun 26. Am J Med Genet A. 2020. PMID: 32588558
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. ...Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exom …
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mu …
42 results