Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A de-novo NFIX mutation causes a case of neonatal lethal Marshall–Smith syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A de-novo 15q24.2 deletion involving SIN3A is associated with emotional, behavioural, motor problems and hypersensitivity in a girl with above average intelligence and typical facial features.
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A child with rhombencephalosynapsis, agenesis of the trigeminal ganglion and optic coloboma (without alopecia): a variant of the cerebellotrigeminal dermal dysplasia?
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers
We describe two brothers of Roma origin born with severe congenital hydrocephalus, brain hypoplasia and other clinical findings corresponding with ALKKUCS. Using WES two novel pathogenic variants c.359-1G>A and c.14564_14565del in compound heterozygous status in the KIAA1109 gene were found in both brothers. We consider that the number of healthy heterozygous carriers of pathogenic variants in KIAA1109 could be higher than it is known and pathogenic variants in KIAA1109 could be more frequent cause of congenital hydrocephalus and severe brain dysplasias. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A further patient with genitopatellar syndrome requiring multidisciplinary management
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Two cases of Nicolaides-Baraitser syndrome, one with a novel SMARCA2 variant
Nicolaides-Baraitser syndrome (NCBRS) (OMIM 601358) is an uncommon but well-recognized autosomal dominant entity that is characterized by sparse scalp hair, characteristic coarse facies, microcephaly, seizures, developmental delay, intellectual disability (ID) and prominence of the interphalangeal joints and distal phalanges. Seizures are also common finding besides developmental delay and ID, which is severe approximately in half, moderate in one third and mild in the remainder. Here, we report two Turkish patients with NCBRS. One has a novel variant [NM_003070.5:c.3389G>T p.(Gly1130Val)] and a mild-moderate phenotype,...
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Clinical and genetic characterization of congenital lipoid adrenal hyperplasia
Disorders of steroid synthesis are a group of anomalies caused by defects in any step of conversion of cholesterol into steroid hormones. The disorders are characterized by defects leading to abnormalities of salt-water balance and/or sexual differentiation. Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of steroid synthesis disorder caused by the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Pathogenic sequence variants in the gene STAR encoding StAR protein leads to CLAH. In the present study, a Pakistani family was c...
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review
The chondrodysplasia with congenital joint dislocations, CHST3 type, which was distinguished by predominantly contractures, marked vertebral changes, and normal facial appearance. Although, some clinical clues can be used for differential diagnosis, it is mostly too difficult to discriminate one type from another on basis of clinical findings only. Eight patients with multiple dislocations from five unrelated families were included in this study to elucidate molecular diagnoses. Clinical exome sequencing (CES) was performed on one patient from each family. Variable degree vertebral changes, pes equinovarus, and kyphoscolio...
Source: Clinical Dysmorphology - September 9, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Letter to the Editor Source Type: research

A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A novel missense variant in CHD7, a rare cause of CHARGE syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, microcephaly, and developmental delay. Several congenital defects, including cardiac, ocular, skeletal anomalies, and psychiatric or behavioural abnormalities, have also been described. Here, we report on two siblings with substantial intrafamilial phenotypic variability carrying a heterozygous deletion of the 1q21.1 region spanning a known critical genomic area (~1.35 Mb). The microdeletion was inherited from the unaffected father. Patients described here show a spectrum of clinical fe...
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families
The objective of the present study is to identify the genetic basis in patients with digital clubbing due to PHO. We performed detailed clinical and radiographic evaluation and exome sequencing in patients from three unrelated Indian families with PHO. Exome sequencing revealed two novel, c.34G>A (p.Gly12Ser) and c.313C>T (p.Gln105*) and a known variant, c.418G>C (p.Ala140Pro) in HPGD. Herein, we add three Indian families to HPGD mutation spectrum and review the literature on variants in this gene. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 11, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Phenotypic variability in Muenke syndrome-observations from five Danish families: Erratum
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Erratum Source Type: research

Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Novel HOXA2 variant presenting with microtia and variable hearing impairment in four-generation pedigree
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion
Deletion of the 1q43q44 chromosomal region has been related to a clinical syndrome characterized by neurodevelopmental delay, intellectual disability, microcephaly, congenital abnormality of the corpus callosum, and epilepsy and dysmorphic features. A wide variability of the clinical features have been linked to the contiguous deleted genes and incomplete penetrance has been observed too. Here, we report a 4-years-old boy with microcephaly, neurodevelopmental delay, and cardiac atrial septal defect, who had a de-novo 117 Kb 1q43-q44 microdeletion. The deleted chromosomal region encompassed the two genes SDCCAG8 and ...
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa is a major form of epidermolysis bullosa and may be inherited as an autosomal dominant or recessive trait, with associated mutations in the COL7A1 gene. Here, we describe a consanguineous Pakistani family with four affected individuals suffering from recessive dystrophic epidermolysis bullosa. Exome sequencing of the proband’s DNA revealed a homozygous missense variant (c.8038G>A:p.Gly2680Ser) in COL7A1 which cosegregated with disease in the family. The emergence of this particular glycine substitution in patients from diverse ethnic backgrounds such as China, United Kingdom, Polan...
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Congenital dermoid inclusion cyst over the anterior fontanel in Chinese children
This study reports nine Chinese cases (three females and six males) with CDIC over the anterior fontanel. The clinical manifestations and imaging were analyzed retrospectively. Surgical resection was undertaken in all cases. The diagnosis of CDIC over the anterior fontanel was confirmed by histological examination. The cysts were all noticed soon after birth and enlarged gradually. They were soft, nontender with a sessile base without inflammatory signs and breaking. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed soft tissue mass over the anterior fontanel without intracranial extensions. The histop...
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia
We report two affected brothers, born to orthodox Jewish parents, in whom we found a novel homozygous missense variant c.4910G>A; p.(Cys1637Tyr) in LRP4 situated in an EGF-like domain between the fourth beta-propeller and transmembrane domains. Both brothers have had recurrent ketotic hypoglycaemia which has not been associated previously. We present 3D computed tomographic imaging illustrating the limb abnormalities in detail. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Original Articles 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 - January 1, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

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