A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A case report of trisomy 17 mosaicism: PMP22: gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Fetal aortopulmonary window associated with urorectal malformation and common cloaca
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Klippel-Feil syndrome: a review of the literature
Klippel-Feil syndrome is a congenital defect in the formation or segmentation of the cervical spine. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated clarification of the genetic causes and management of patient’s with congenital vertebral fusion. In this review, we focussed on clinical heterogeneity; radiographic abnormalities and genetic etiology in Klippel-Feil syndrome. We insist on comprehensive evaluation and delineation of diagnostic and prognostic classes. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Review Article Source Type: research

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene
In this study, we report three sporadic BWS patients with novel pathogenic variants in the CDKN1C gene, including one missense (c.181T>C) and two frameshift (c.415_416dup, c.804delC). Detailed clinical evaluation of the patients showed variable manifestation of the disease and underlined the diagnostic challenge for BWS patients at various age of life. The child with the c.415_416dup variant presented with two rare features observed so far in only a few BWS patients with CDKN1C pathogenic variants: supernumerary flexion creases and agenesis of corpus callosum. Confirmation of these findings in another BWS patient adds t...
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Microdeletion of the entire IRF6 gene in a Subsaharian African’s family with Van der Woude syndrome
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. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of ...
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family
Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner. BBS is caused by disease causing sequence variants in the 22 BBS genes identified to date. In the present study, a single consanguineous Pakistani Family with BBS was clinically and genetically characterized. After establishing linkage to a BBS gene on chromosome 4q27, Sanger sequencing was performed in all available affected and unaffected members. Sequence analysis of the BBS7 gene revealed novel...
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants
With the increasing availability and clinical use of exome and whole-genome sequencing, reverse phenotyping is now becoming common practice in clinical genetics. Here, we report a patient identified through the Wellcome Trust Deciphering Developmental Disorders study who has homozygous pathogenic variants in CC2D2A and a de-novo heterozygous pathogenic variant in KIDINS220. He presents with developmental delay, intellectual disability, and oculomotor apraxia. Reverse phenotyping has demonstrated that he likely has a composite phenotype with contributions from both variants. The patient is much more mildly affected than tho...
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Phenotypic variability in Muenke syndrome—observations from five Danish families
Muenke syndrome is a craniosynostosis syndrome associated with the p.Pro250Arg mutation in FGFR3. An increasing number of individuals with this mutation are reported to not have craniosynostosis. The purpose of this report is to increase awareness of the high phenotypic variability seen in Muenke syndrome. DNA testing for the p.Pro250Arg mutation is routinely performed in Denmark, in children presenting with isolated coronal synostosis. Verified diagnosis entails detailed family history, drawing of family pedigree, DNA testing of the parents, genetic counseling, skull radiographs, clinical photographs, and follow-up. Sixte...
Source: Clinical Dysmorphology - December 7, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation
We report three brothers presenting with the SATB2-associated syndrome. They all carry the same 121-kb heterozygous intragenic deletion of SATB2. Parental somatic mosaicism was detected by array-comparative genomic hybridization on a maternal blood sample and confirmed by Fluorescence in situ hybridization analysis on blood and buccal cells. This clinical report highlights the importance of investigating for parental somatic mosaicism to estimate the proper recurrence risk for subsequent pregnancy. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Phenotypic delineation of a 12q21 deletion syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

GATAD2B-related intellectual disability due to parental mosaicism and review of literature
In this study, we report on an additional subject with GATAD2B-related intellectual disability identified through whole exome sequencing. The clinically unaffected father harboured the pathogenic variant in a mosaic state. We review the existing phenotypic and genotypic information for the individuals with this condition. GATAD2B-related intellectual disability is a rare condition with subtle yet recognizable clinical features. In this article, we highlight a consistent clinical profile of subjects with GATAD2B-related intellectual disability. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis
We report the first UK family with Traboulsi syndrome associated with two novel ASPH variants. This condition, which has some phenotypic overlap with both Marfan syndrome and homocystinuria, is most likely under ascertained, and we further delineate the clinical features to aid its recognition. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review
Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder caused by biallelic variants in UBE3B. Kaufman oculocerebrofacial syndrome is characterized by a recognizable pattern of malformations including moderate to severe intellectual disability, growth deficiency, microcephaly and a distinctive facial gestalt. Common craniofacial features include short upslanting palpebral fissures, blepharophimosis or ptosis, ear anomalies, hearing loss, palate anomalies and stridor/laryngomalacia. The aim of this study was to describe the phenotypic features and the genotype of five new individuals from three unrelated ...
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Expansion of phenotype of DDX3X syndrome: six new cases
In this study, we describe six female probands, from five unrelated families, with five novel heterozygous variants in DDX3X, and the identification of potential germline mosaicism. Consistent features between this cohort and previously described cases include developmental delay or intellectual disability, growth disturbance and movement disorder. Common facial dysmorphism within the cohort include short palpebral fissures, micrognathia, bulbous nasal tip, protruding ears, high arched palate, thin upper vermillion and smooth philtrum. Novel clinical features identified from this cohort include facial dysmorphisms, perinat...
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Letter to the Editor Source Type: research

Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Dual diagnosis causing severe phenotype in a patient with Angelman syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Unusual association of Mayer–Rokitansky–Küster–Hauser and Sotos syndromes: a case report
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Phenotypic description of two adult brothers presenting with mild form of Smith–Lemli–Opitz syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Further delineation of DDX3X syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Myhre syndrome: a report of six Chinese patients and literature review
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
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. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar...
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity
We describe the case of a 31-year-old male with intellectual disability, obesity and dysmorphic features, in whom array–comparative genomic hybridization identified a de novo 9.55 Mb deletion at 1q31.2q32.1. We discuss the genes encompassed within the deleted region; in particular, the implications of the deleted cancer-predisposing gene, CDC-73, and compare our clinical findings to other cases with similar deletions. The absence of microcephaly and growth retardation appears to differentiate more proximal interstitial 1q deletions from intermediate 1q deletions, and the presence of obesity is a newly reported...
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype
We described herein a patient with CDLS5, an X-linked form, caused by mutations in the HDAC8 gene inherited form the mosaic mother. Analysis of results from whole exome sequencing identified two variants with possible impact on the phenotype. Of them, hemizygous variant (c.938G>A, p.Arg313Gln) inherited from the mosaic mother, was further proved to lead to disease in the proband. Our intention was to delineate this syndrome but also point out the clinical course of the disease, which only in combination with a facial phenotype allow for verification of exome sequencing result. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature
In this report, we describe the first patient with Ser40Trp variant in IFITM5, who presented with multiple fractures in the prenatal period. She remained fracture free after birth (except for trauma-related fractures during puberty) with normal bone mineral densitometry. Her mother, who did not have a history of fracture, was noted to have somatogonadal mosaicism for this variant and became pregnant with a second child with multiple prenatal fractures, found to have the same variant. To our knowledge, this is the first case of somatogonadal mosaicism in IFITM5. In addition, we have summarized the literature on patients pre...
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders
The 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. Associated phenotypes of the two subgroups were compared and analysed. Of the 166 Deciphering Developmental Disorders participants with hypospadias and neurodevelopmental delay, 47 (28%) had c...
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series
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. There are six genes identified for spondylocostal dysostosis, of which SCDO5 is responsible for autosomal dominant form of the disorder. Retrospective study was conducted in Genetic and Metabolic unit of a tertiary hospital in north India over a period of 9 years. Twenty patien...
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

De novo Xq21.31–q21.32 duplication in intellectual disability: a new report
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research

Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in: DEAF1: gene
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research

Novel mutation in MASP1 gene in a new family with 3MC syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research

Meier-Gorlin syndrome: an additional case report in an adult woman
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research

LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research

Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research

A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research

Autosomal recessive cutis laxa: a novel mutation in the: FBLN5: gene in a family
We report a family study of a child with ARCL. FBLN5 genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A>G, p.R173H mutation in exon 6 of the FBLN5 gene, whereas the parents were heterozygous. The mutation was found to be ‘possibly pathogenic’ in bioinformatic analysis. We identified a novel FBLN5 mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define t...
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research