Pierpont syndrome: report of a new patient
We report on a male child with developmental delay, distinctive facial dysmorphic features, dystrophy, and abnormal fat distribution in the feet, in whom we identified the identical TBL1XR1 mutation. This patient also had additional clinical features including microphthalmia, pendular nystagmus, cryptorchidism, dermal sinus, and peripheral joint laxity, which had not been reported previously in association with Pierpont syndrome. This patient corroborates the assumption that Pierpont syndrome is exclusively caused by the specific TBL1XR1 missense mutation p.(Tyr446Cys) and the additional features broaden the phenotypic spe...
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Marfanoid habitus is a nonspecific feature of Perrault syndrome
The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype–phenotype correlation of patients with the same mutation by review of the literature. Whole-exome sequencing was performed. Data analysis was carried out and confirmed by Sanger sequencing and segregation. The affected siblings were diagnosed as having Perrault syndrome with sensorineural hearing loss at low frequencies; the female proband had primary amenorrhea and ovarian dysgenesis. Both affected individua...
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature
We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain. Molecular testing in patient 1 revealed a missense variant of a highly conserved residue c.782 C>G (p.P261R). This variant has been reported once with fatal outcome. Patient 2 also had a missense variant in a highly conserved neighboring residue c.770 C>T (p.S257L). This variant has been previously reported, most recently associated with the development of pulmonary arterial hypertension. Both our patients had prenatal findings of polyhydramnios, short long bones, hydrops fetalis, and cardiac anomalie...
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Severe intellectual disability in a patient with Burn–McKeown syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Letter to the Editor Source Type: research
Achalasia–microcephaly syndrome: a further case report
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
De-novo Williams–Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Co-occurrence of rhabdomyosarcoma and Mowat–Wilson syndrome: is there a connection?
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Congenital radial head dislocation and low immunoglobulin M levels in 6p25.3 deletion
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Ichthyosis congenita with biliary atresia: a rare association
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel TWIST1 gene mutation in a patient with Saethre–Chotzen syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Rubinstein–Taybi because of a novel EP300 mutation with novel clinical findings
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Familial unilateral carpal bone dysplasia in mother and daughter
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
KBG syndrome: 16q24.3 microdeletion in an Indian patient
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
STAR syndrome: a further case and the first report of maternal mosaicism
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
3q27.3 Microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
