1,597 results match your criteria Clinical Dysmorphology [Journal]


Dual diagnosis causing severe phenotype in a patient with Angelman syndrome.

Clin Dysmorphol 2019 Apr 15. Epub 2019 Apr 15.

Sheffield Clinical Genetics Service.

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http://dx.doi.org/10.1097/MCD.0000000000000280DOI Listing

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.

Clin Dysmorphol 2019 Apr 10. Epub 2019 Apr 10.

Department of Paediatrics, KK Women's and Children's Hospital.

Osteogenesis imperfecta, is a genetically and clinically heterogeneous connective tissue disorder that disrupts bone architecture, making it fragile and more prone to fractures. While more than 85% of cases are due to variants in COL1A1 and COL1A2, variants in noncollagen genes have been identified in the remaining cases. The recurring heterozygous variant in IFITM5 (c. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000279DOI Listing
April 2019
1 Read

Phenotypic delineation of a 12q21 deletion syndrome.

Clin Dysmorphol 2019 Apr 10. Epub 2019 Apr 10.

Department of Genetic Medicine, Belfast City Hospital.

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http://dx.doi.org/10.1097/MCD.0000000000000274DOI Listing

Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

Clin Dysmorphol 2019 Apr 2. Epub 2019 Apr 2.

Department of Human genetics, KU Leuven, Leuven, Belgium.

Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000272DOI Listing

Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome.

Clin Dysmorphol 2019 Mar 28. Epub 2019 Mar 28.

Department of Medical Genetics, University of Medical Sciences in Poznan.

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http://dx.doi.org/10.1097/MCD.0000000000000276DOI Listing

Fetal aortopulmonary window associated with urorectal malformation and common cloaca.

Clin Dysmorphol 2019 Mar 28. Epub 2019 Mar 28.

Department of Cardio-thoracic vascular surgery, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Gorimedu, Pondicherry.

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http://dx.doi.org/10.1097/MCD.0000000000000265DOI Listing

Myhre syndrome: a report of six Chinese patients and literature review.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

Clinical Genetic Service, Department of Health.

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http://dx.doi.org/10.1097/MCD.0000000000000271DOI Listing

Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

West Midlands Regional Clinical Genetics Service and Birmingham Health Partners.

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http://dx.doi.org/10.1097/MCD.0000000000000267DOI Listing

Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

Department of Pediatrics, PGIMER, Chandigarh, India.

Disorders associated with multiple vertebral segmentation defects may have additional rib anomalies in form of absence or hypoplastic ribs, fanning of ribs, etc. Spondylocostal dysostosis is genetic disorder with abnormal vertebral segmentation and rib anomalies. Diagnosis is often delayed because of non-familiarity with the characteristic features. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000269DOI Listing

Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

Hawai'i Community Genetics, Kapi'olani Medical Center for Women and Children.

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http://dx.doi.org/10.1097/MCD.0000000000000266DOI Listing

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

Department of Medical Genetics, Hospital Materno Infantil "Ramón Sardá", Buenos Aires, Argentina.

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http://dx.doi.org/10.1097/MCD.0000000000000270DOI Listing

Unusual association of Mayer-Rokitansky-Küster-Hauser and Sotos syndromes: a case report.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, Cranmer Terrace, London SW17 0RE.

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http://dx.doi.org/10.1097/MCD.0000000000000273DOI Listing

Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

Developmental Endocrinology Research Group.

Ther objective of our study was to use an established cohort of boys to investigate common patterns of malformations in those with hypospadias. We performed a retrospective review of the phenotype of participants in the Deciphering Developmental Disorders Study with neurodevelopmental delay and an 'Abnormality of the genital system'. This group was divided into two subgroups: those with hypospadias and without hypospadias. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000275DOI Listing

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University, Mainz, Mainz, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000268DOI Listing

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.

Clin Dysmorphol 2019 Mar 26. Epub 2019 Mar 26.

Department of Medical Genetics, Warsaw Medical University.

Cornelia de Lange syndrome (CDLS) is a clinically and genetically heterogeneous developmental disorder characterized by multiple malformations. Primarily, affected individuals have unique and recognizable dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. However, also milder, as well as slightly phenotypically different forms exist. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000277DOI Listing

Further delineation of DDX3X syndrome.

Clin Dysmorphol 2019 Feb 26. Epub 2019 Feb 26.

Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000263DOI Listing
February 2019

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.

Clin Dysmorphol 2019 Feb 14. Epub 2019 Feb 14.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000262DOI Listing
February 2019
1 Read

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Clin Dysmorphol 2019 Apr;28(2):66-70

Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre.

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http://dx.doi.org/10.1097/MCD.0000000000000259DOI Listing
April 2019
9 Reads

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

Clin Dysmorphol 2019 Apr;28(2):71-73

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000260DOI Listing
April 2019
1 Read

Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.

Clin Dysmorphol 2019 Apr;28(2):63-65

Pediatrics, Medical Faculty, Inonu University, Malatya, Turkey.

FBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000258DOI Listing
April 2019
4 Reads

Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.

Clin Dysmorphol 2019 Apr;28(2):57-62

Department of Clinical Genetics, Academic Medical Center Amsterdam.

Stüve-Wiedemann syndrome (OMIM #601559) is a rare, autosomal recessive disorder characterized by skeletal dysplasia, consecutive infections, feeding difficulties and autonomic dysregulation. We present an Afro-Caribbean family with two siblings diagnosed with Stüve-Wiedemann syndrome. The underlying loss-of-function mutation in the leukemia inhibitory factor receptor gene is thought to impair proper functioning of the JAK/STAT 3 pathway. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000255DOI Listing
April 2019
1 Read

De novo Xq21.31-q21.32 duplication in intellectual disability: a new report.

Clin Dysmorphol 2019 Apr;28(2):98-100

Pediatric Department, ASST Lariana, Sant'Anna Hospital, Como, Italy.

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http://dx.doi.org/10.1097/MCD.0000000000000257DOI Listing
April 2019
11 Reads

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Clin Dysmorphol 2019 Apr;28(2):91-93

Department of Medical Genetics, Intergen Genetic Center, Ankara, Turkey.

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http://dx.doi.org/10.1097/MCD.0000000000000256DOI Listing
April 2019
4 Reads

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Clin Dysmorphol 2019 Jan;28(1):7-16

Greenwood Genetic Center, Greenwood, South Carolina.

Mucolipidosis-IIIγ (ML-IIIγ) is a recessively inherited slowly progressive skeletal dysplasia caused by mutations in GNPTG. We report the genetic and clinical findings in the largest cohort with ML-IIIγ so far: 18 affected individuals from 12 families including 12 patients from India, five from Turkey, and one from the USA. With consanguinity confirmed in eight of 12 families, molecular characterization showed that all affected patients had homozygous pathogenic GNPTG genotypes, underscoring the rarity of the disorder. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000249DOI Listing
January 2019
4 Reads

A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome.

Clin Dysmorphol 2019 Apr;28(2):74-77

Division of Neonatology, Salesi Children's Hospital, Ancona.

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http://dx.doi.org/10.1097/MCD.0000000000000251DOI Listing
April 2019
1 Read

Meier-Gorlin syndrome: an additional case report in an adult woman.

Clin Dysmorphol 2019 Apr;28(2):86-90

Department of Endocrinology, Faculty of Medicine of Tunis, University of Tunis El Manar, La Rabta Hospital, Tunis, Tunisia.

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http://dx.doi.org/10.1097/MCD.0000000000000253DOI Listing
April 2019
1 Read
0.416 Impact Factor

Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene.

Clin Dysmorphol 2019 Apr;28(2):94-97

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1097/MCD.0000000000000252DOI Listing
April 2019
4 Reads

A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.

Clin Dysmorphol 2019 Jan;28(1):22-25

Medical Biology and Genetics.

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000250DOI Listing
January 2019
6 Reads

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

Clin Dysmorphol 2019 Jan;28(1):17-21

Departments of Medical Genetics.

Glycogen storage disease IV (GSD IV), caused by a defect in GBE1, is a clinically heterogeneous disorder. A classical hepatic form and a neuromuscular form have been described. The severe neuromuscular form presents as a fetal akinesia deformation sequence or a congenital subtype. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000248DOI Listing
January 2019
3 Reads

Ophthalmic manifestations associated with RARB mutations.

Clin Dysmorphol 2019 Jan;28(1):46-49

Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital.

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http://dx.doi.org/10.1097/MCD.0000000000000246DOI Listing
January 2019
2 Reads

The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly.

Clin Dysmorphol 2019 Jan;28(1):38-40

Department of Pediatrics, Subdivision of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.

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http://Insights.ovid.com/crossref?an=00019605-201901000-0000
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http://dx.doi.org/10.1097/MCD.0000000000000247DOI Listing
January 2019
2 Reads

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.

Clin Dysmorphol 2019 Jan;28(1):41-45

3D Craniofacial Image Research Laboratory, School of Dentistry.

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http://dx.doi.org/10.1097/MCD.0000000000000244DOI Listing
January 2019
8 Reads

UBE2A-related X-linked intellectual disability.

Clin Dysmorphol 2019 Jan;28(1):1-6

Greenwood Genetic Center, Greenwood, South Carolina, USA.

UBE2A-related X-linked intellectual disability is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual disability. Five affected males in two families are described here and compared with the previously reported 17 males in eight families. The new cases are notable for the absence of nail dystrophy, previously considered a defining manifestation, and for the presence of hypogammaglobulinemia and adult-onset ataxia. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279472PMC
January 2019
13 Reads

Congenital lateral abdominal wall defect in two Congolese children.

Clin Dysmorphol 2019 Jan;28(1):50-52

Department of Human Genetics, Catholic University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1097/MCD.0000000000000239DOI Listing
January 2019
5 Reads

Type VI syndactyly with skeletal dysplasia: a new syndrome?

Clin Dysmorphol 2019 Jan;28(1):30-34

Departments of Clinical Genetics.

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http://dx.doi.org/10.1097/MCD.0000000000000238DOI Listing
January 2019
1 Read

Mutation of PACS1: the milder end of the spectrum.

Clin Dysmorphol 2018 Oct;27(4):148-150

Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.

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http://dx.doi.org/10.1097/MCD.0000000000000237DOI Listing
October 2018
13 Reads

Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D.

Clin Dysmorphol 2018 Oct;27(4):130-134

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh.

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http://dx.doi.org/10.1097/MCD.0000000000000236DOI Listing
October 2018
2 Reads

A case of diencephalic syndrome presenting with isolated lipodystrophy.

Clin Dysmorphol 2018 Oct;27(4):122-125

Manchester Centre for Genomic Medicine, St Mary's Hospital.

Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy and failure to thrive. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000235DOI Listing
October 2018
24 Reads

Facial profile and additional features in fetuses with trisomy 21.

Clin Dysmorphol 2018 Oct;27(4):126-129

Aneuploidies occur in about 5% of clinically recognized pregnancies. Facial gestalt is a vital tool for the clinical diagnosis of trisomy 21. Facial anomalies are subtle in fetal life and challenging for a clinician not familiar with perinatal dysmorphology. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000234DOI Listing
October 2018
4 Reads

A rare mutation in the EPG5 gene causes Vici syndrome.

Clin Dysmorphol 2018 Oct;27(4):145-147

Department of Medical Biology and Genetics, Medical Faculty, Inonu University, Malatya.

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http://dx.doi.org/10.1097/MCD.0000000000000233DOI Listing
October 2018
5 Reads

SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature.

Clin Dysmorphol 2018 Oct;27(4):113-115

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield.

Autism spectrum disorder (ASD) encompasses a spectrum of pervasive neuropsychiatric disorders characterized by deficits in social interaction, communication, unusual and repetitive behaviours. The aetiology of ASD is believed to involve complex interactions between genetic and environmental factors; it can be further classified as syndromic or nonsyndromic, according to whether it is the primary diagnosis or secondary to an existing condition where both common and rare genetic variants contribute to the development of ASD or are clearly causal. The prevalence of ASD in children is increasing with higher rates of diagnosis and an estimated one in 100 affected in the UK. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000232DOI Listing
October 2018
8 Reads

Familial impairment of vocal cord mobility in childhood with clubfoot.

Clin Dysmorphol 2018 Oct;27(4):116-121

British Columbia Children's Hospital Research Institute.

We report on a family with three siblings, male and female, affected by congenital bilateral limitation of vocal cord abduction, with the additional finding of clubfeet in two. The paternal family history suggests an autosomal dominant inheritance. The siblings and father also have mild craniofacial features, which may be an expression of variability or may be unrelated. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000227DOI Listing
October 2018
27 Reads