Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 6, 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 6, 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 6, 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 6, 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 to t...
Source: Clinical Dysmorphology - December 6, 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 6, 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 6, 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 6, 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 6, 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
