A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1
This report expands on the clinical and molecular spectrum of MYCN-related disorders and highlights the importance of MYCN protein in normal human thumb and foramen development. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 19, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Delayed diagnosis of Williams–Beuren syndrome in an adolescent of Jamaican descent: examining racial disparities in genetics education
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A child with congenital short gut associated with DYNC2LI1 ciliopathy
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Desbuquois dysplasia Kim variant: a rare case report syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
When Rothmund–Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
SOX11-related syndrome: report on a new case and review
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature
We report a 10-year-old girl with macrocephaly and global developmental delay, in whom a novel heterozygous variant in the HIST1H1Egene [c.392_395dup (p.Gly133fs)] was discovered, but involving the same C-terminal domain-protein domain reported previously. Comparing the clinical data of our patient with those previously described, a ‘core phenotype’ with macrocephaly, psychomotor delay/intellectual disability and mild facial dysmorphisms seems evident. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome
Pathogenic variations in the SLC9A6 gene are associated with an X-linked disorder Christianson syndrome characterized by developmental delay, microcephaly, intellectual disability, autistic-like behavior and epilepsy. We identified a novel pathogenic variation in the SLC9A6 gene in a boy with developmental delay and microcephaly. Herein we report the clinical findings of the case diagnosed as Christianson syndrome; his mother was found to carry the same variant. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin–Lowry syndrome in a family with variable features and diabetes 2
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report
Temple-Baraitser syndrome (TMBTS; OMIM: 611816) is a rare developmental disorder characterized by severe mental retardation and anomalies of thumb and great toe with absence/hypoplasia of the nails. Here, we report an additional patient with TMBTS, review clinical and radiological features of previously reported cases and discuss mode of inheritance. The patient exhibited a pattern of anomalies: mild dysmorphic facial features with a wide open mouth, a thick vermilion border of the upper lip and downturned corners of the mouth; nails were absent on both great toes and thumb. Electroencephalogram showed a diffusely slow bac...
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Female congenital aphallia: a unique case of congenital absence of the clitoris with an ectopic labium majorum
The spectrum of disorders of sexual development includes anatomical abnormalities of the external genitalia, the phenotypic variability of which and the underlying causes are numerous. However, female aphallia and ectopia of the labium majorum appear to be some of the rarest forms of external genitalia malformations. Aphallia is mostly described in males with a frequency of less than one per 40 000 male newborns. Although syndromic forms of aphallia in females have been reported, for example, in Robinow, CHARGE, and Prader–Willi syndrome, reports of isolated female aphallia are meager. Here, we describe the first case of...
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant
In this study, we aimed to describe atypical phenotypic characteristics in a patient with familial partial lipodystrophy type 2 associated with LMNA variant, another with mandibuloacral dysplasia, and a third patient with a complex phenotype as well as discuss them in the context of their relationship with the genotype. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
