journal
https://read.qxmd.com/read/38411002/waardenburg-syndrome-type-1-a-case-report-of-a-family-with-a-intragenic-pax3-deletion-with-no-hearing-loss-or-heterochromia-of-iris
#1
JOURNAL ARTICLE
Laura Macaskill, Lisa Reali, Swati Naik
No abstract text is available yet for this article.
February 26, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38441203/a-case-report-of-hennekam-syndrome-with-a-mutation-in-the-ccbe1-gene
#2
JOURNAL ARTICLE
Taner Durak, Derya Karaer, Kadri Karaer
No abstract text is available yet for this article.
April 1, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38441202/dual-diagnosis-of-microcephalic-osteosplastic-primary-dwarfism-type-ii-and-benign-familial-infantile-seizure-type-2-a-case-report
#3
JOURNAL ARTICLE
Shuyao Zhu, Jin Wang, Hui Zhu, Qiyan Wang, Bei Tang, Fu Xiong, Zemin Luo, Ai Chen, Xueyan Wang, Xiangyou Leng, Lan Zeng
No abstract text is available yet for this article.
April 1, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38441201/variants-of-the-gnai1-gene-manifest-as-prader-willi-like-syndrome-case-report-with-literature-review
#4
JOURNAL ARTICLE
Fatima AbdulAziz AlAli, Taqwa Drdir, Amna Yahya, Elham Al Amiri
No abstract text is available yet for this article.
April 1, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38441200/novel-and-recurrent-variants-in-pax6-in-four-patients-with-ocular-phenotypes-from-southeast-asia
#5
JOURNAL ARTICLE
Jeannette Goh, Heming Wei, Angeline H M Lai, Benjamin Chang, Shazia Khan, Yamon Syn, Saumya S Jamuar, Ene-Choo Tan
Aniridia is an autosomal dominant condition characterized by the complete or partial absence of the iris, often with additional presentations such as foveal hypoplasia, nystagmus, cataract, glaucoma and other ocular abnormalities. Most cases are caused by heterozygous mutations in the paired box 6 gene (PAX6), which codes for a transcription factor that regulates eye development. Four patients from our hospital who presented with ocular phenotypes were recruited for research sequencing with informed consent...
April 1, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38411000/a-17-month-old-girl-with-fetal-valproate-syndrome-and-ocular-coloboma
#6
JOURNAL ARTICLE
Maria Moutafi, Athina Ververi, Kyriaki Papadopoulou-Legbelou, Nikolaos Gkiourtzis, Maria Fotoulaki, Asimina Mataftsi
No abstract text is available yet for this article.
February 16, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38410982/novel-ube3b-mutations-report-of-eight-patients-with-kaufman-oculocerebrofacial-syndrome-with-additional-clinical-findings-from-a-highly-consanguineous-population
#7
JOURNAL ARTICLE
AlBandary Albakheet, Duaa Almuallami, Rawan Almass, Alya Qari, Rosan Kenana, Hanan AlQudairy, Rozeena Huma, Hadeel Binomar, Salma Majid Wakil, Mohammad Alowain, Dilek Colak, Namik Kaya, Moeenaldeen D AlSayed
Biallelic mutations in UBE3B cause Kaufman oculocerebrofacial syndrome (KOS; OMIM 244450) with a wide range of clinical manifestations. In this study, we employed genetic analyses including homozygosity mapping, candidate gene sequencing, whole exome sequencing, and confirmatory Sanger sequencing on eight patients from three unrelated consanguineous families. Our analysis yielded three different novel variants in UBE3B: a missense substitution [NM_130466.4: c.2975C>T; (p.Pro992Leu)] in the HECT domain in family 1, a 3-bp deletion within exon 14 [c...
February 16, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38410977/the-likelihood-of-detecting-abnormal-karyotypes-in-fetuses-with-a-single-major-anomaly-or-soft-marker-on-ultrasonographic-scanning
#8
JOURNAL ARTICLE
Bojana Petrovic, Srboljub Milicevic, Dragisa Sljivancanin, Ljiljana Zdelar Stojanovic, Jelena Stamenkovic, Milka Grk, Marija Dusanovic Pjevic
OBJECTIVE: Fetuses with abnormal karyotypes often exhibit distinctive ultrasonographic markers, including major anomalies and "soft" markers, indicating potential chromosomal issues. A crucial consideration arises when a single fetal anomaly is detected, raising the question of whether karyotyping is warranted, given the associated procedural risks. Our objective was to establish correlations between single fetal anomalies identified through ultrasound and chromosomal abnormalities. METHODS: A cross-sectional study analyzed the karyotype of 1493 fetuses and detected a single ultrasonographic anomaly over a 16-year period...
February 16, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38410976/a-case-of-14q-terminal-deletion-syndrome-and-hemifacial-microsomia-with-review-of-terminal-14q-deletion-cases
#9
JOURNAL ARTICLE
Hayriye Nermin Keçeci', Müşerref Basdemirci, Hüseyin Çaksen
No abstract text is available yet for this article.
February 16, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38363857/prenatal-presentation-and-diagnosis-of-a-case-of-fetal-varicella-syndrome
#10
JOURNAL ARTICLE
Manisha Yadav, Mamatha Gowda, Chinta Navya, Kirti Deodhare, Sneha Murugesan
No abstract text is available yet for this article.
February 6, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38348958/a-novel-actb-variant-in-an-atypical-case-of-baraitser-winter-syndrome-with-cerebellar-hypoplasia-and-diaphragmatic-hernia
#11
JOURNAL ARTICLE
Yukiko Kuroda, Yoko Saito, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa
No abstract text is available yet for this article.
January 5, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/37865865/to-b-enign-or-not-to-b-functionalisation-of-variant-in-a-mild-form-of-argininosuccinate-lyase-deficiency-identified-through-newborn-screening
#12
JOURNAL ARTICLE
Thurston Yan Jia Heng, Jin Rong Ow, Ai Ling Koh, James Soon Chuan Lim, Christine Bee Keow Ong, Jasmine Chew Yin Goh, Jiin Ying Lim, Fang Kuan Chiou, Saumya Shekhar Jamuar
Argininosuccinate lyase (ASL) deficiency is an autosomal recessive disorder of the urea cycle with a diverse spectrum of clinical presentation that is detectable in newborn screening. We report an 8-year-old girl with ASL deficiency who was detected through newborn screening and was confirmed using biochemical and functional assay. She is compound heterozygous for a likely pathogenic variant NM_000048.4(ASL):c.283C>T (p.Arg95Cys) and a likely benign variant NM_000048.4(ASL): c.1319T>C (p.Leu440Pro). Functional characterisation of the likely benign genetic variant in ASL was performed...
January 1, 2024: Clinical Dysmorphology
https://read.qxmd.com/read/38348832/another-case-of-nuclear-speckleopathy-due-to-a-novel-nkap-pathogenic-variant
#13
JOURNAL ARTICLE
Himanshu Goel, Sheridan O'Donnell, Tony Roscioli, Franki Hart
No abstract text is available yet for this article.
December 14, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/38038141/comprehensive-phenotyping-of-fetuses-with-trisomy-18-a-perinatal-center-experience
#14
JOURNAL ARTICLE
Mangalore S Shravya, Katta M Girisha, Shalini S Nayak
Trisomy 18 is the second most common aneuploidy after trisomy 21. It presents with varying degrees of heterogeneous clinical phenotypes involving multiple organ systems, with a high mortality rate. Clinical assessment of fetal trisomy 18 is always challenging. In this study, we describe the phenotypes of the fetuses with trisomy 18 from a perinatal cohort. We reviewed fetuses with trisomy 18 in referrals for perinatal autopsy over the period of 15 years. A detailed phenotyping of the fetuses with trisomy 18 was executed by perinatal autopsy...
November 30, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/38038060/fragile-x-syndrome-in-democratic-republic-of-congo-dysmorphic-cognitive-and-behavioral-findings-in-14-subjects-from-three-families
#15
JOURNAL ARTICLE
Toni Kasole Lubala, Tony Kayembe-Kitenge, Nina Lubala, Gray Kanteng, Oscar Luboya, Randi Hagerman, Prosper Lukusa-Tshilobo, Aimé Lumaka
This study reports on 14 individuals with Fragile X syndrome from 3 Congolese Families. The majority (8/14) were males, with an average age of 18.4 (±11.1 [14-38]) years old. Typical dysmorphic characteristics of Fragile-X syndrome including elongated face, large and prominent ears were found in both males and females with the full mutation. Macroorchidism was found in all post-pubertal boys. The cognitive ability in our cohort varies widely ranging from mild (IQ 50-70) to moderate (IQ 35-49) intellectual disability (Average IQ of 60)...
November 30, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/38037992/moyamoya-disease-cerebral-vasculopathy-in-osteopathia-striata-with-cranial-sclerosis-a-rare-but-important-complication
#16
JOURNAL ARTICLE
Lucy Scrimshaw, Kathleen Gorman, Sahar Mansour, Vijeya Ganesan, Ataf Sabir
Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant sclerosing osteodysplasia, due to AMER1 pathogenic variants. Characteristic features include craniofacial sclerosis and long-bone metaphyseal striations. Moyamoya disease (a type of progressive cerebral vasculopathy) and other types of cerebral vascular disease are not currently clearly associated with OSCS (except for two separate case reports), and can often first present with stroke. Through informal networks with UK-based bone experts and the UK skeletal dysplasia group, three cases from the UK and Ireland were identified...
November 30, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/38038056/coloboma-in-a-family-with-tonne-kalsheuer-syndrome-extending-the-phenotype-of-rlim-variants
#17
JOURNAL ARTICLE
Kerra M Templeton, Louise Thompson, Edward S Tobias, S Faisal Ahmed, Ruth McGowan
No abstract text is available yet for this article.
November 15, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/38038053/translocation-t-x-y-characterized-by-chromosomal-microarray-and-fish-in-a-phenotypic-male-with-microphthalmia-and-linear-skin-defects
#18
JOURNAL ARTICLE
Kanika Singh, Meena Lall, Shruti Agarwal, Ratna D Puri
No abstract text is available yet for this article.
November 13, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37865862/lpin2-related-majeed-syndrome-report-of-two-indian-patients-with-novel-variants-in-lpin2-and-review-of-literature
#19
JOURNAL ARTICLE
Vaishnavi Ashok Badiger, Suma Balan, Sumanth Madan, Kishore Sai Gogineni, Hitesh Shah, Dhanya Lakshmi Narayanan
LPIN2-related Majeed syndrome (MIM# 609628) is a rare non-inflammasome autoinflammatory disease, caused due to biallelic variants in LPIN2 (MIM* 605519). To date, only 31 individuals from 18 families have been reported with this rare condition. Exome sequencing was done in two affected individuals from two unrelated families. Additionally, phenotypic, and genotypic information from the literature was reviewed. Two novel homozygous missense variants, c.2207G>A p. (Arg736His) and c.1157C>G p. (Ser386Ter) in LPIN2, were identified in family 1 and family 2 respectively...
October 13, 2023: Clinical Dysmorphology
https://read.qxmd.com/read/37678404/a-previous-clinical-diagnosis-of-ullrich-feichtiger-syndrome-is-molecularly-defined-as-townes-brocks-syndrome
#20
JOURNAL ARTICLE
Andrea Guala, Enrico Grosso, Piergiorgio Franceschini, Cesare Danesino
No abstract text is available yet for this article.
October 1, 2023: Clinical Dysmorphology
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