1,578 results match your criteria Clinical Dysmorphology [Journal]


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

Clin Dysmorphol 2019 Feb 12. Epub 2019 Feb 12.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000259DOI Listing
February 2019

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

Clin Dysmorphol 2019 Jan 18. Epub 2019 Jan 18.

Greenwood Genetic Center, Greenwood, South Carolina, USA.

View Article

Download full-text PDF

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

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

Clin Dysmorphol 2019 Jan 11. Epub 2019 Jan 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000258DOI Listing
January 2019
2 Reads

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

Clin Dysmorphol 2019 Jan 4. Epub 2019 Jan 4.

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

View Article

Download full-text PDF

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

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

Clin Dysmorphol 2019 Jan 5. Epub 2019 Jan 5.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000257DOI Listing
January 2019
6 Reads

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

Clin Dysmorphol 2018 Dec 28. Epub 2018 Dec 28.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000256DOI Listing
December 2018
1 Read

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

View Article

Download full-text PDF

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

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

Clin Dysmorphol 2018 Nov 21. Epub 2018 Nov 21.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000251DOI Listing
November 2018
1 Read

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

Clin Dysmorphol 2018 Nov 19. Epub 2018 Nov 19.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000253DOI Listing
November 2018
1 Read
0.416 Impact Factor

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

Clin Dysmorphol 2018 Nov 19. Epub 2018 Nov 19.

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

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00019605-900000000-9954
Publisher Site
http://dx.doi.org/10.1097/MCD.0000000000000252DOI Listing
November 2018
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000250DOI Listing
January 2019
2 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

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00019605-900000000-9954
Publisher Site
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000246DOI Listing
January 2019
1 Read

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.

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00019605-201901000-0000
Publisher Site
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.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00019605-900000000-9955
Publisher Site
http://dx.doi.org/10.1097/MCD.0000000000000242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279472PMC
January 2019
9 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.

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00019605-201901000-0001
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000237DOI Listing
October 2018
7 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.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000235DOI Listing
October 2018
20 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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000233DOI Listing
October 2018
3 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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

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

A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly.

Clin Dysmorphol 2018 07;27(3):109-111

Gaziantep Dr. Ersin Arslan Research and Education Hospital, Gaziantep.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000217DOI Listing
July 2018
3 Reads

HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation.

Clin Dysmorphol 2018 Jul;27(3):94-96

Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000226DOI Listing
July 2018
16 Reads

Robinow syndrome: a diagnosis at the fingertips.

Clin Dysmorphol 2018 Oct;27(4):135-137

Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126946PMC
October 2018
3 Reads

A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype-phenotype correlation.

Clin Dysmorphol 2018 Oct;27(4):142-144

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000228DOI Listing
October 2018
8 Reads
0.420 Impact Factor

Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?

Authors:
Evren Gumus

Clin Dysmorphol 2018 Oct;27(4):138-141

Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000229DOI Listing
October 2018
3 Reads

Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review.

Clin Dysmorphol 2018 Jul;27(3):84-87

Clinical Genetic Service, Department of Health, HKSAR, Hong Kong, Hong Kong.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000225DOI Listing
July 2018
4 Reads

De-novo interstitial 2.33 Mb deletion in 8q24.3: new insights on a very rare partial monosomy syndrome.

Clin Dysmorphol 2018 Jul;27(3):97-100

Department of Pediatric Neurology, Clinic for Pediatrics, Braunschweig.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000224DOI Listing
July 2018
5 Reads

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics.

Clin Dysmorphol 2018 Jul;27(3):71-77

Departments of Clinical Genetics.

In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of Char syndrome. Genetic analysis showed heterozygosity for the novel variant c.851T>C, p. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000222DOI Listing
July 2018
5 Reads

A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema.

Authors:
Evren Gumus

Clin Dysmorphol 2018 Jul;27(3):91-93

Department of Medical Genetics, School of Medicine, Harran University, Sanliurfa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000221DOI Listing
July 2018
3 Reads

Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients.

Clin Dysmorphol 2018 Jul;27(3):78-83

Department of Clinical Genetics, Amsterdam Medical Center, University of Amsterdam.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000219DOI Listing
July 2018
8 Reads

A newborn diagnosed with van Maldergem syndrome.

Clin Dysmorphol 2018 Apr;27(2):63-65

Department of Neonatology, Etlik Zubeyde Hanim Women's Health Training and Research Hospital, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000211DOI Listing
April 2018
29 Reads

Complex cranio-vertebral malformation: disruption sequence or iniencephaly?

Clin Dysmorphol 2018 Jul;27(3):105-108

Department of Pediatrics, University of Lausanne and Lausanne University Hospital, Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000218DOI Listing
July 2018
8 Reads

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element.

Clin Dysmorphol 2018 Apr;27(2):58-62

Department of Clinical Genetics, VU University Medical Center, Amsterdam.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000216DOI Listing
April 2018
4 Reads

Mutation in the ADNP gene associated with Noonan syndrome features.

Clin Dysmorphol 2018 Apr;27(2):53-57

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000215DOI Listing
April 2018
8 Reads

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.

Clin Dysmorphol 2018 Apr;27(2):31-35

Victorian Clinical Genetics Services, Murdoch Children's Research Institute.

Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000214DOI Listing
April 2018
66 Reads
0.420 Impact Factor